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Gene: HMBS (hydroxymethylbilane synthase) Chlorocebus sabaeus

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Symbol:

HMBS

Name:

hydroxymethylbilane synthase

RGD ID:

18437284

Description:

ENCODES a protein that exhibits amine binding (ortholog); carboxylic acid binding (ortholog); hydroxymethylbilane synthase activity (ortholog); INVOLVED IN animal organ regeneration (ortholog); astrocyte differentiation (ortholog); cellular response to amine stimulus (ortholog); PARTICIPATES IN acute intermittent porphyria pathway; erythropoietic porphyria pathway; heme biosynthetic pathway; ASSOCIATED WITH Abdominal Pain (ortholog); acute intermittent porphyria (ortholog); Acute Intermittent Porphyria, Nonerythroid Variant (ortholog); FOUND IN axon (ortholog); condensed chromosome (ortholog); perinuclear region of cytoplasm (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

porphobilinogen deaminase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	110,457,799 - 110,466,361 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	acute intermittent porphyria	susceptibility	ISO	RGD:733095	9068941	DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)	RGD	PMID:9523350\|REF_RGD_ID:19165353
HMBS	Green Monkey	acute intermittent porphyria	severity	ISO	RGD:733096	9068941	DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)	RGD	PMID:30615115\|REF_RGD_ID:21079460
HMBS	Green Monkey	acute intermittent porphyria	treatment	ISO	RGD:733095	9068941	human mRNA in a mouse model	RGD	PMID:30297912\|REF_RGD_ID:21079456
HMBS	Green Monkey	acute intermittent porphyria	treatment	ISO	RGD:733095	9068941	human gene in a mouse model	RGD	PMID:28990424\|REF_RGD_ID:21079452
HMBS	Green Monkey	bilirubin metabolic disorder		ISO	RGD:2801	9068941	protein:increased activity:liver (rat)	RGD	PMID:3963818\|REF_RGD_ID:4144803
HMBS	Green Monkey	Experimental Diabetes Mellitus		ISO	RGD:2801	9068941	protein:decreased activity:liver (rat)	RGD	PMID:6688350\|REF_RGD_ID:4144808
HMBS	Green Monkey	Hepatic Porphyrias		ISO	RGD:2801	9068941	protein:increased activity:liver (rat)	RGD	PMID:6721832\|REF_RGD_ID:4144806
HMBS	Green Monkey	Hypercholesterolemia		ISO	RGD:733095	9068941	associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes	RGD	PMID:2809566\|REF_RGD_ID:2301684
HMBS	Green Monkey	liver carcinoma	sexual_dimorphism	ISO	RGD:2801	9068941	Protein:increased activity:liver (rat)	RGD	PMID:1781034\|REF_RGD_ID:25440495
HMBS	Green Monkey	Liver Metastasis		ISO	RGD:2801	9068941	associated with colon adenocarcinoma;protein:decreased activity:liver(rat)	RGD	PMID:1386052\|REF_RGD_ID:25440496
HMBS	Green Monkey	obstructive jaundice		ISO	RGD:2801	9068941	Protein:increased activity:liver (rat)	RGD	PMID:3963818\|REF_RGD_ID:4144803
HMBS	Green Monkey	prostate carcinoma		ISO	RGD:733095	9068941	mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009)	RGD	PMID:16211407\|REF_RGD_ID:2301682
HMBS	Green Monkey	seminoma		ISO	RGD:733095	9068941	mRNA:increased expression:tumor	RGD	PMID:15823405\|REF_RGD_ID:2301683
HMBS	Green Monkey	sickle cell anemia		ISO	RGD:733095	9068941	protein:increased activity:erythrocyte	RGD	PMID:900140\|REF_RGD_ID:12904674
HMBS	Green Monkey	urinary bladder cancer		ISO	RGD:733095	9068941	urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p more ...	RGD	PMID:16600798\|REF_RGD_ID:2301681

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	Abdominal Pain		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Abdominal pain	ClinVar
HMBS	Green Monkey	acute intermittent porphyria		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway \| ClinVar Annotator: match more ...	ClinVar	PMID:10453740\|PMID:10494093\|PMID:10502788\|PMID:10602775\|PMID:10782018\|PMID:10790212\|PMID:10944860\|PMID:11013452\|PMID:11030413\|PMID:11055586\|PMID:11399210\|PMID:11591889\|PMID:11831862\|PMID:11857754\|PMID:12357456\|PMID:12372055\|PMID:12566739\|PMID:12773194\|PMID:1301948\|PMID:1427766\|PMID:1496994\|PMID:15003823\|PMID:15469427\|PMID:15534187\|PMID:15643298\|PMID:1577472\|PMID:16025832\|PMID:16199547\|PMID:16211556\|PMID:16817012\|PMID:1714233\|PMID:17298216\|PMID:17298217\|PMID:1747120\|PMID:17576681\|PMID:18406650\|PMID:18414213\|PMID:18627369\|PMID:19138865\|PMID:19207107\|PMID:19267997\|PMID:19292878\|PMID:19401933\|PMID:19460837\|PMID:1961762\|PMID:19656452\|PMID:19656453\|PMID:19694018\|PMID:2025226\|PMID:20301372\|PMID:20978940\|PMID:2227955\|PMID:2243128\|PMID:2246851\|PMID:2246852\|PMID:22748422\|PMID:23815679\|PMID:24055113\|PMID:24997713\|PMID:25016127\|PMID:25118551\|PMID:25525159\|PMID:25637381\|PMID:25741868\|PMID:26062020\|PMID:26075277\|PMID:26095755\|PMID:26582343\|PMID:27507172\|PMID:27539938\|PMID:27558376\|PMID:27769855\|PMID:27849156\|PMID:27884173\|PMID:2789372\|PMID:28492532\|PMID:2864531\|PMID:29360981\|PMID:29594648\|PMID:30071891\|PMID:30385147\|PMID:30740734\|PMID:30766957\|PMID:31044425\|PMID:31073229\|PMID:31153822\|PMID:31216405\|PMID:31572191\|PMID:32191290\|PMID:32197664\|PMID:32581362\|PMID:32844070\|PMID:33445488\|PMID:34089223\|PMID:34411356\|PMID:34426522\|PMID:35722412\|PMID:36115019\|PMID:36304064\|PMID:36329616\|PMID:36409970\|PMID:36627197\|PMID:37344829\|PMID:6985467\|PMID:7635464\|PMID:7757070\|PMID:7962538\|PMID:8081367\|PMID:8096492\|PMID:8168829\|PMID:8262514\|PMID:8262523\|PMID:8268934\|PMID:8270254\|PMID:8270256\|PMID:8401516\|PMID:8533808\|PMID:8565205\|PMID:9067752\|PMID:9199558\|PMID:9225970\|PMID:9238757\|PMID:9281416\|PMID:9350165\|PMID:9463797\|PMID:9536098\|PMID:9654202\|PMID:9702975
HMBS	Green Monkey	Acute Intermittent Porphyria, Nonerythroid Variant		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant	ClinVar	PMID:10343207\|PMID:11071386\|PMID:12406973\|PMID:16199547\|PMID:2511016\|PMID:2563167\|PMID:25923088\|PMID:27539938\|PMID:28492532\|PMID:2915972\|PMID:7757070\|PMID:7962538\|PMID:9199558\|PMID:9860299
HMBS	Green Monkey	acute porphyria		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Acute Porphyria	ClinVar	PMID:11055586\|PMID:11399210\|PMID:12372055\|PMID:1301948\|PMID:15643298\|PMID:16211556\|PMID:16817012\|PMID:17298217\|PMID:1747120\|PMID:18414213\|PMID:23815679\|PMID:25118551\|PMID:25741868\|PMID:27507172\|PMID:27539938\|PMID:28492532\|PMID:2864531\|PMID:29360981\|PMID:30071891\|PMID:30385147\|PMID:30740734\|PMID:31044425\|PMID:31572191\|PMID:36304064\|PMID:36329616\|PMID:37344829\|PMID:7635464\|PMID:7757070\|PMID:7962538
HMBS	Green Monkey	anxiety disorder		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Anxiety	ClinVar	PMID:25741868
HMBS	Green Monkey	CD3epsilon deficiency		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: CD3epsilon deficiency	ClinVar	PMID:14602880\|PMID:15546002\|PMID:1635567\|PMID:17277165\|PMID:24216686\|PMID:24910257\|PMID:25373860\|PMID:26822028\|PMID:28492532\|PMID:8490660
HMBS	Green Monkey	chromosome 11 partial duplication syndrome		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Distal trisomy 11q	ClinVar	PMID:25741868
HMBS	Green Monkey	congenital disorder of glycosylation		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome \| ClinVar Annotator: match by term: Congenital more ...	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532
HMBS	Green Monkey	congenital disorder of glycosylation Ij		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532
HMBS	Green Monkey	congenital myasthenic syndrome 13		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates	ClinVar	PMID:18414213\|PMID:25741868\|PMID:28492532
HMBS	Green Monkey	Dwarfism		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Short stature	ClinVar	PMID:32581362
HMBS	Green Monkey	ENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Encephalopathy, porphyria-related	ClinVar	PMID:10494093\|PMID:11055586\|PMID:11399210\|PMID:12372055\|PMID:12773194\|PMID:1301948\|PMID:1496994\|PMID:14970743\|PMID:15003823\|PMID:15534187\|PMID:15643298\|PMID:1577472\|PMID:19207107\|PMID:2243128\|PMID:2246851\|PMID:2246852\|PMID:23815679\|PMID:25741868\|PMID:26075277\|PMID:27539938\|PMID:27558376\|PMID:27769855\|PMID:28492532\|PMID:29360981\|PMID:30766957\|PMID:32197664\|PMID:34089223\|PMID:35722412\|PMID:6985467\|PMID:7635464\|PMID:7962538\|PMID:8270256\|PMID:9199558\|PMID:9281416
HMBS	Green Monkey	Familial Atrial Fibrillation 14		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Atrial fibrillation, familial, 14	ClinVar	PMID:28492532
HMBS	Green Monkey	genetic disease		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26795593\|PMID:27539938\|PMID:28492532
HMBS	Green Monkey	glycogen storage disease Ib		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Glucose-6-phosphate transport defect	ClinVar	PMID:28492532
HMBS	Green Monkey	immunodeficiency 17		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Immunodeficiency 17 \| ClinVar Annotator: match by term: Immunodeficiency 17, more ...	ClinVar	PMID:14602880\|PMID:15546002\|PMID:1635567\|PMID:17277165\|PMID:24216686\|PMID:24910257\|PMID:25373860\|PMID:26822028\|PMID:28492532\|PMID:8490660
HMBS	Green Monkey	immunodeficiency 18		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Immunodeficiency 18	ClinVar	PMID:14602880\|PMID:15546002\|PMID:1635567\|PMID:17277165\|PMID:24216686\|PMID:24910257\|PMID:25373860\|PMID:26822028\|PMID:28492532\|PMID:8490660
HMBS	Green Monkey	immunodeficiency 19		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Immunodeficiency 19	ClinVar	PMID:14602880\|PMID:15546002\|PMID:1635567\|PMID:17277165\|PMID:24216686\|PMID:24910257\|PMID:25373860\|PMID:26822028\|PMID:28492532\|PMID:8490660
HMBS	Green Monkey	inflammatory bowel disease 28		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Inflammatory bowel disease 28	ClinVar	PMID:14602880\|PMID:15546002\|PMID:1635567\|PMID:17277165\|PMID:24216686\|PMID:24910257\|PMID:25373860\|PMID:26822028\|PMID:28492532\|PMID:8490660
HMBS	Green Monkey	isolated microphthalmia 5		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Isolated microphthalmia 5	ClinVar	PMID:28492532
HMBS	Green Monkey	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, porphyria-related	ClinVar	PMID:11055586\|PMID:12372055\|PMID:12773194\|PMID:15003823\|PMID:15534187\|PMID:15643298\|PMID:1577472\|PMID:19207107\|PMID:2243128\|PMID:2246851\|PMID:2246852\|PMID:23815679\|PMID:24055113\|PMID:25525159\|PMID:25637381\|PMID:25741868\|PMID:27539938\|PMID:27558376\|PMID:28492532\|PMID:29360981\|PMID:30766957\|PMID:32191290\|PMID:32197664\|PMID:34089223\|PMID:34411356\|PMID:35722412\|PMID:36409970\|PMID:36627197\|PMID:6985467\|PMID:7962538\|PMID:9199558
HMBS	Green Monkey	long QT syndrome 10		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Long QT syndrome 10	ClinVar	PMID:28492532
HMBS	Green Monkey	RASopathy		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: RASopathy	ClinVar	PMID:28492532
HMBS	Green Monkey	schizophrenia		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311
HMBS	Green Monkey	Vomiting		ISO	RGD:733095	8554872	ClinVar Annotator: match by term: Vomiting	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	acute intermittent porphyria		ISO	RGD:733095	7240710		OMIM
HMBS	Green Monkey	ENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	7240710		OMIM
HMBS	Green Monkey	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED		ISO	RGD:733095	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	animal organ regeneration		ISO	RGD:2801	9068941	liver	RGD	PMID:2886336\|REF_RGD_ID:4144800
HMBS	Green Monkey	astrocyte differentiation		ISO	RGD:2801	9068941		RGD	PMID:12917623\|REF_RGD_ID:2301689
HMBS	Green Monkey	cellular response to amine stimulus		ISO	RGD:2801	9068941	5-aminolevulinic acid	RGD	PMID:10416273\|REF_RGD_ID:2303399
HMBS	Green Monkey	cellular response to antibiotic		ISO	RGD:2801	9068941	ascofuranone	RGD	PMID:19688726\|REF_RGD_ID:4144778
HMBS	Green Monkey	cellular response to arsenic-containing substance		ISO	RGD:2801	9068941		RGD	PMID:10416273\|REF_RGD_ID:2303399
HMBS	Green Monkey	cellular response to cytokine stimulus		ISO	RGD:2801	9068941	erythropoietin	RGD	PMID:4019471\|REF_RGD_ID:4144804
HMBS	Green Monkey	cellular response to dexamethasone stimulus		ISO	RGD:2801	9068941		RGD	PMID:7917467\|REF_RGD_ID:4144799
HMBS	Green Monkey	cellular response to lead ion		ISO	RGD:2801	9068941		RGD	PMID:16566714\|REF_RGD_ID:4144781
HMBS	Green Monkey	heme A biosynthetic process	involved_in	IEA	UniProtKB:P22907\|ensembl:ENSMUSP00000076575	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	heme B biosynthetic process	involved_in	IEA	UniProtKB:P08397\|UniProtKB:P22907\|ensembl:ENSMUSP00000076575\|ensembl:ENSP00000498786	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	heme biosynthetic process	involved_in	IEA	UniProtKB:P08397\|ensembl:ENSP00000498786	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	heme biosynthetic process	involved_in	IEA	PANTHER:PTN000168178	150520179		TreeGrafter	GO_REF:0000118
HMBS	Green Monkey	heme O biosynthetic process	involved_in	IEA	UniProtKB:P22907\|ensembl:ENSMUSP00000076575	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	liver development		ISO	RGD:2801	9068941		RGD	PMID:971328\|REF_RGD_ID:25394583
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	Urophorphyrin I	RGD	PMID:3963818\|PMID:6694518\|PMID:994723\|REF_RGD_ID:25330343\|REF_RGD_ID:25440497\|REF_RGD_ID:4144803
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process	involved_in	IEA	ARBA:ARBA00027896	150520179		UniProt	GO_REF:0000117
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process	involved_in	IEA	UniProtKB-KW:KW-0627	150520179		UniProt	GO_REF:0000043
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	Uroporphyrinogen	RGD	PMID:3702597\|REF_RGD_ID:4144820
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	Uroporphyrin	RGD	PMID:1781034\|REF_RGD_ID:25440495
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	Uroporphyrin I	RGD	PMID:11202056\|PMID:3179323\|PMID:6893114\|PMID:971328\|REF_RGD_ID:2301707\|REF_RGD_ID:25394583\|REF_RGD_ID:26923963\|REF_RGD_ID:4144783
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	Urophorphyrin	RGD	PMID:6732900\|REF_RGD_ID:25394584
HMBS	Green Monkey	porphyrin-containing compound biosynthetic process		ISO	RGD:2801	9068941	uroporphyrin I	RGD	PMID:11786116\|REF_RGD_ID:26923962
HMBS	Green Monkey	porphyrin-containing compound metabolic process		ISO	RGD:2801	9068941	Porphobilinogen	RGD	PMID:6732900\|PMID:6893114\|PMID:971328\|PMID:994723\|REF_RGD_ID:25394583\|REF_RGD_ID:25394584\|REF_RGD_ID:25440497\|REF_RGD_ID:26923963
HMBS	Green Monkey	porphyrin-containing compound metabolic process		ISO	RGD:2801	9068941	Uroporphyrinogen	RGD	PMID:1781034\|REF_RGD_ID:25440495
HMBS	Green Monkey	porphyrin-containing compound metabolic process		ISO	RGD:2801	9068941	Uroporphyrinogen	RGD	PMID:593266\|REF_RGD_ID:26884337
HMBS	Green Monkey	porphyrin-containing compound metabolic process		ISO	RGD:2801	9068941	Porphobilinogen	RGD	PMID:11202056\|PMID:11786116\|PMID:3179323\|PMID:3702597\|PMID:3963818\|REF_RGD_ID:2301707\|REF_RGD_ID:26923962\|REF_RGD_ID:4144783\|REF_RGD_ID:4144803\|REF_RGD_ID:4144820
HMBS	Green Monkey	protoporphyrinogen IX biosynthetic process	involved_in	IEA	UniProtKB:P08397\|ensembl:ENSP00000498786	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	protoporphyrinogen IX biosynthetic process	involved_in	IEA	UniPathway:UPA00251	150520179		UniProt	GO_REF:0000041
HMBS	Green Monkey	response to amino acid		ISO	RGD:2801	9068941	S-adenosyl-L-methionine	RGD	PMID:8295845\|REF_RGD_ID:4144812
HMBS	Green Monkey	response to carbohydrate		ISO	RGD:2801	9068941	formaldehyde	RGD	PMID:17285311\|REF_RGD_ID:1600699
HMBS	Green Monkey	response to cobalt ion		ISO	RGD:2801	9068941		RGD	PMID:6688350\|REF_RGD_ID:4144808
HMBS	Green Monkey	response to estradiol		ISO	RGD:2801	9068941	17alpha-ethinyl estradiol	RGD	PMID:10416826\|REF_RGD_ID:4144786
HMBS	Green Monkey	response to hormone		ISO	RGD:2801	9068941	melatonin	RGD	PMID:9468112\|REF_RGD_ID:4144792
HMBS	Green Monkey	response to hypoxia		ISO	RGD:2801	9068941		RGD	PMID:3697363\|REF_RGD_ID:4144802
HMBS	Green Monkey	response to lead ion		ISO	RGD:2801	9068941		RGD	PMID:16566714\|REF_RGD_ID:4144781
HMBS	Green Monkey	response to metal ion		ISO	RGD:2801	9068941	cisplatin	RGD	PMID:4040350\|REF_RGD_ID:4144805
HMBS	Green Monkey	response to methylmercury		ISO	RGD:2801	9068941		RGD	PMID:3327437\|REF_RGD_ID:4145123
HMBS	Green Monkey	response to nutrient levels		ISO	RGD:2801	9068941	restricted diet	RGD	PMID:8000239\|REF_RGD_ID:4144797
HMBS	Green Monkey	response to vitamin		ISO	RGD:2801	9068941	vitamin C	RGD	PMID:9559098\|REF_RGD_ID:4144791
HMBS	Green Monkey	response to xenobiotic stimulus		ISO	RGD:2801	9068941	tamoxifen	RGD	PMID:10571258\|REF_RGD_ID:4144785
HMBS	Green Monkey	response to xenobiotic stimulus		ISO	RGD:2801	9068941	Sulfonamide	RGD	PMID:6893114\|REF_RGD_ID:26923963
HMBS	Green Monkey	response to zinc ion		ISO	RGD:2801	9068941		RGD	PMID:8582750\|REF_RGD_ID:4144793
HMBS	Green Monkey	tetrapyrrole biosynthetic process		ISO	RGD:2801	9068941		RGD	PMID:12127573\|PMID:18760440\|PMID:6712591\|PMID:9344466\|REF_RGD_ID:2301691\|REF_RGD_ID:2301695\|REF_RGD_ID:2301704\|REF_RGD_ID:2301858
HMBS	Green Monkey	tetrapyrrole biosynthetic process	involved_in	IEA	InterPro:IPR000860\|InterPro:IPR022417\|InterPro:IPR022418\|InterPro:IPR022419\|InterPro:IPR036803	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	axon		ISO	RGD:2801	9068941	MMO:0000498	RGD	PMID:11202056\|REF_RGD_ID:4144783
HMBS	Green Monkey	condensed chromosome	located_in	ISO	RGD:2801	9068941	strong staining of metaphase and anaphase chromatids	RGD	PMID:12917623\|REF_RGD_ID:2301689
HMBS	Green Monkey	cytoplasm	located_in	IEA	PANTHER:PTN000168178	150520179		TreeGrafter	GO_REF:0000118
HMBS	Green Monkey	cytosol	is_active_in	IEA	UniProtKB:P22907\|ensembl:ENSMUSP00000076575	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	perinuclear region of cytoplasm		ISO	RGD:2801	9068941	MMO:0000498	RGD	PMID:11202056\|REF_RGD_ID:4144783

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	amine binding		ISO	CHEBI:17381	9068941	substrate porphobilinogen binding	RGD	PMID:9344466\|REF_RGD_ID:2301695
HMBS	Green Monkey	carboxylic acid binding		ISO	CHEBI:17381	9068941	substrate porphobilinogen binding	RGD	PMID:9344466\|REF_RGD_ID:2301695
HMBS	Green Monkey	hydroxymethylbilane synthase activity		ISO	RGD:2801	9068941		RGD	PMID:12127573\|PMID:1386052\|PMID:18760440\|PMID:3179323\|PMID:3702597\|PMID:3963818\|PMID:593266\|PMID:6712591\|PMID:9344466\|PMID:971328\|PMID:994723\|REF_RGD_ID:2301691\|REF_RGD_ID:2301695\|REF_RGD_ID:2301704\|REF_RGD_ID:2301707\|REF_RGD_ID:2301858\|REF_RGD_ID:25394583\|REF_RGD_ID:25440496\|REF_RGD_ID:25440497\|REF_RGD_ID:26884337\|REF_RGD_ID:4144803\|REF_RGD_ID:4144820
HMBS	Green Monkey	hydroxymethylbilane synthase activity	enables	IEA	UniProtKB:P08397\|UniProtKB:P22907\|ensembl:ENSMUSP00000076575\|ensembl:ENSP00000498786	150520179		Ensembl	GO_REF:0000107
HMBS	Green Monkey	hydroxymethylbilane synthase activity	enables	IEA	PANTHER:PTN000168178	150520179		TreeGrafter	GO_REF:0000118
HMBS	Green Monkey	hydroxymethylbilane synthase activity	enables	IEA	InterPro:IPR000860\|InterPro:IPR022417\|InterPro:IPR022418\|InterPro:IPR022419\|InterPro:IPR036803	150520179		InterPro	GO_REF:0000002
HMBS	Green Monkey	hydroxymethylbilane synthase activity	enables	IEA	EC:2.5.1.61	150520179		UniProt	GO_REF:0000003
HMBS	Green Monkey	hydroxymethylbilane synthase activity	enables	IEA	ARBA:ARBA00028611	150520179		UniProt	GO_REF:0000117
HMBS	Green Monkey	protein binding		ISO	RGD:1617568	9068941		RGD	PMID:12917623\|REF_RGD_ID:2301689
HMBS	Green Monkey	protein binding	enables	ISO	UniProtKB:Q9NRD5	9068941	PMID:32296183	IntAct	PMID:32296183
HMBS	Green Monkey	protein binding	enables	ISO	UniProtKB:P42858	9068941	PMID:32814053	IntAct	PMID:32814053
HMBS	Green Monkey	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
HMBS	Green Monkey	uroporphyrinogen-III synthase activity		ISO	RGD:2801	9068941	in the presence of tetrahydropteroylglutamate	RGD	PMID:6466301\|REF_RGD_ID:2303402

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	heme biosynthetic pathway		ISO	RGD:2801	9068941		RGD	PMID:1781034\|PMID:593266\|PMID:6694518\|PMID:6712591\|PMID:6893114\|REF_RGD_ID:2301704\|REF_RGD_ID:25330343\|REF_RGD_ID:25440495\|REF_RGD_ID:26884337\|REF_RGD_ID:26923963
HMBS	Green Monkey	heme biosynthetic pathway		ISO	RGD:733095	9068941		RGD	PMID:16839620\|PMID:26785297\|REF_RGD_ID:11554188\|REF_RGD_ID:4144542

Imported Annotations - SMPDB

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HMBS	Green Monkey	acute intermittent porphyria pathway		ISO	RGD:733095	9068941		SMPDB	SMP:00344
HMBS	Green Monkey	erythropoietic porphyria pathway		ISO	RGD:733095	9068941		SMPDB	SMP:00345
HMBS	Green Monkey	hereditary coproporphyria pathway		ISO	RGD:733095	9068941		SMPDB	SMP:00342
HMBS	Green Monkey	porphyrin metabolic pathway		ISO	RGD:733095	9068941		SMPDB	SMP:00024
HMBS	Green Monkey	variegate porphyria pathway		ISO	RGD:733095	9068941		SMPDB	SMP:00346

PMID:22301074	PMID:30032202

HMBS
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	110,457,799 - 110,466,361 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

HMBS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	119,084,881 - 119,093,549 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	119,084,866 - 119,093,834 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	118,955,591 - 118,964,259 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	118,460,797 - 118,469,469 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	118,460,802 - 118,469,467	NCBI
Celera	11	116,113,008 - 116,121,673 (+)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	114,895,043 - 114,903,707 (+)	NCBI		HuRef
CHM1_1	11	118,841,878 - 118,850,561 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	119,105,272 - 119,113,932 (+)	NCBI		T2T-CHM13v2.0

Hmbs
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	44,247,645 - 44,255,525 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	44,247,636 - 44,255,525 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	44,336,348 - 44,344,228 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	44,336,339 - 44,344,228 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	44,144,431 - 44,152,311 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	44,087,343 - 44,095,170 (-)	NCBI		MGSCv36	mm8
Celera	9	41,591,069 - 41,599,175 (-)	NCBI		Celera
Cytogenetic Map	9	A5.2	NCBI
cM Map	9	24.84	NCBI

Hmbs
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	53,570,364 - 53,577,758 (-)	NCBI		GRCr8
mRatBN7.2	8	44,673,554 - 44,680,950 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	44,673,554 - 44,680,957 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	50,169,431 - 50,176,911 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	48,448,147 - 48,455,627 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	46,318,525 - 46,325,957 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	48,667,278 - 48,674,673 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	48,667,275 - 48,674,748 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	47,286,249 - 47,293,618 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	47,314,235 - 47,321,604 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	47,323,010 - 47,328,455 (-)	NCBI
Celera	8	44,259,787 - 44,267,156 (-)	NCBI		Celera
RH 3.4 Map	8	428.0	RGD
Cytogenetic Map	8	q22	NCBI

Hmbs
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955412	20,192,522 - 20,202,635 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	20,192,519 - 20,202,635 (+)	NCBI	ChiLan1.0	ChiLan1.0

HMBS
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	119,789,723 - 119,798,327 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	120,893,421 - 120,902,024 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	113,923,004 - 113,931,732 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	117,852,295 - 117,860,757 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	117,852,295 - 117,860,757 (+)	Ensembl	panpan1.1		panPan2

HMBS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	14,767,306 - 14,775,205 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	14,767,666 - 14,775,082 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	14,820,660 - 14,828,175 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	14,710,999 - 14,718,527 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	14,710,641 - 14,718,554 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	14,849,036 - 14,856,511 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	14,753,058 - 14,760,536 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	14,793,431 - 14,800,910 (-)	NCBI		UU_Cfam_GSD_1.0

Hmbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	101,116,546 - 101,124,682 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936542	4,037,201 - 4,050,810 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936542	4,037,888 - 4,046,089 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HMBS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	46,300,050 - 46,308,868 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	46,300,039 - 46,308,681 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	51,335,231 - 51,343,641 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Hmbs
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624784	14,467,533 - 14,474,954 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624784	14,467,515 - 14,474,954 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in HMBS
146 total Variants

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	20	36	36	60	20


RefSeq Transcripts	XM_008021151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JBLKOC010000001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MT742560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MW192760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MW192761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MW192762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MW192763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MW192764	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000000553 ⟹ ENSCSAP00000015508

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl

RefSeq Acc Id:

XM_008021151 ⟹ XP_008019342

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	1	110,457,799 - 110,466,361 (+)	NCBI
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,219 (-)	NCBI

Sequence:

show sequence

GGGATGTAGCAAAGCTAAGTTTGAACAAAGCAAAGGAAGTGCCATAGAAGCTGCACTACTTGCTCATGCCACAGCTGGGGAATGGAGAGGTCGAATGAGGAGGTCCACTCTGTCGCAATGTTCCAATT
CCCGCCCAGAGGGAGGGACCTCCCCTTCGAGGGAGGGCGCCGGAAGTGACGTGAGCCCTGCGGAGACCAGGAGTCAGACTGTAGGACAAGCTCGGGCCCCACGTGTCCCCGGTACTCGCCGGCCGGAG
CCCCCGGCTTCCCGGGGCTGGGGGACCTTAGCGGCACCCAAACACAGCCTACTTCCTAAGCGGAGCCATGTCTGGTAACGGCAATGCGGCTGCAACGGCGGAAGAAAACAGCCCAAAGATGAGAGTGA
TTCGCGTGGGTACCCGCAAGAGCCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAACACTGAAAGCCTTGTACCCTGGCCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGGGACAAGATT
CTTGATACTGCACTCTCTAAGATTGGAGAGAAGAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACAGTGCTTCCTCC
TGGCTTCACCATCGGAGCCATCTGCAAGCGGGAAAACCCCCATGATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACCCTAGAAACCTTGCCAGAGAAGAGTGTGGTGGGAACCAGCTCCCTGC
GGAGAGCGGCCCAGCTGCAGAGAAAGTTCTCACATCTGGAGTTCAGGAGTATTCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCT
GGCCTGCAGCGCATGGGCTGGCATAACCGGGTGGGGCAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGGGGCCTTGGGCGTGGAAGTCCGAGCCAAGGACCAGGACATCTTGGATCT
GGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGAAGGAGGCTGCAGCGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGT
ACCTGACTGGAGGAGTCTGGAGTCTAGATGGCTCAGATAGCATACAAGACACCATGCAGGCTACCATCCATGTCCCTGCCCAGCATGAAGATGGCCCTGAGGATGACCCACAGCTGGTAGGCATCACT
GCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTA
ACTGGTCTGTGGGGCACAGATGCCTCGGTTGCTGCTGTCCAGTGCCTACATCCCGGCCCTCAGTGCCCCATTCTCACTGCTGTCTGGGGAGTGATTACCTCAGAAGACTGAACTGCAGGGTTCAAGCC
TTCCGGGGATTTGCCTCAGTTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCCACAGCCTTTGAATGTAACCAACTCTACTAATAAACCAGC
TCTGAAGGTGT

hide sequence

RefSeq Acc Id:

XM_008021152 ⟹ XP_008019343

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	1	110,458,163 - 110,466,361 (+)	NCBI
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI

Sequence:

show sequence

TGAGCCGGTGACCAGCACACTTTGGGCTTCTGGACGAGCCGTGCAGCAATTGGCCCCAGGTTGC
CATCCTCAGTCGCTATTGGAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAACACTGAAAGCCTTGTACCCTGG
CCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGGGACAAGATTCTTGATACTGCACTCTCTAAGATTGGAGAGAAGAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAAGTGG
ACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACAGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGCGGGAAAACCCCCATGATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACC
CTAGAAACCTTGCCAGAGAAGAGTGTGGTGGGAACCAGCTCCCTGCGGAGAGCGGCCCAGCTGCAGAGAAAGTTCTCACATCTGGAGTTCAGGAGTATTCGGGGAAACCTCAACACCCGGCTTCGGAA
GCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCATAACCGGGTGGGGCAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGGGG
CCTTGGGCGTGGAAGTCCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGAAGGAGGCTGC
AGCGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGTACCTGACTGGAGGAGTCTGGAGTCTAGATGGCTCAGATAGCATACAAGACACCATGCAGGCTACCATCCATGTCCCTGCCCA
GCATGAAGATGGCCCTGAGGATGACCCACAGCTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAG
CCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTCTGTGGGGCACAGATGCCTCGGTTGCTGCTGTCCAGTGCCTACATCCCGGCCCTCAGTGCCCCATTCTCACTGCTG
TCTGGGGAGTGATTACCTCAGAAGACTGAACTGCAGGGTTCAAGCCTTCCGGGGATTTGCCTCAGTTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGT
CCAAGCCACAGCCTTTGAATGTAACCAACTCTACTAATAAACCAGCTCTGAAGGTGT

hide sequence


Protein RefSeqs	XP_008019342	(Get FASTA)	NCBI Sequence Viewer
	XP_008019343	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000015508
	ENSCSAP00000015508.1
GenBank Protein	QOY25023	(Get FASTA)	NCBI Sequence Viewer
	UNY86223	(Get FASTA)	NCBI Sequence Viewer
	UNY86224	(Get FASTA)	NCBI Sequence Viewer
	UNY86225	(Get FASTA)	NCBI Sequence Viewer
	UNY86226	(Get FASTA)	NCBI Sequence Viewer
	UNY86227	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_008019342 ⟸ XM_008021151
- Peptide Label:	isoform X2
- UniProtKB:	A0A0D9S3R9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_008019343 ⟸ XM_008021152
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSCSAP00000015508 ⟸ ENSCSAT00000000553

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000002535	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000000553.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.160.40	UniProtKB/TrEMBL
	Periplasmic binding protein-like II	UniProtKB/TrEMBL
InterPro	HemC	UniProtKB/TrEMBL
	Porphobilin_deaminase_cofac_BS	UniProtKB/TrEMBL
	Porphobilin_deaminase_N	UniProtKB/TrEMBL
	Porphobilinogen_deaminase_C	UniProtKB/TrEMBL
	Porphobilinogen_deaminase_C_sf	UniProtKB/TrEMBL
KEGG Report	csab:103248618	UniProtKB/TrEMBL
NCBI Gene	HMBS	ENTREZGENE
PANTHER	PORPHOBILINOGEN DEAMINASE	UniProtKB/TrEMBL
	PTHR11557	UniProtKB/TrEMBL
Pfam	Porphobil_deam	UniProtKB/TrEMBL
	Porphobil_deamC	UniProtKB/TrEMBL
PIRSF	4pyrrol_synth_OHMeBilane_synth	UniProtKB/TrEMBL
PRINTS	PORPHBDMNASE	UniProtKB/TrEMBL
PROSITE	PORPHOBILINOGEN_DEAM	UniProtKB/TrEMBL
Superfamily-SCOP	Periplasmic binding protein-like II	UniProtKB/TrEMBL
	SSF54782	UniProtKB/TrEMBL
UniProt	A0A0D9S3R9	ENTREZGENE, UniProtKB/TrEMBL
	A0A872YPU0_CHLSB	UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB