HCST (hematopoietic cell signal transducer)

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Gene: HCST (hematopoietic cell signal transducer) Homo sapiens

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Symbol:

HCST

Name:

hematopoietic cell signal transducer

RGD ID:

1350033

HGNC Page

HGNC:16977

Description:

Enables phosphatidylinositol 3-kinase binding activity; protein-macromolecule adaptor activity; and signaling receptor binding activity. Involved in natural killer cell mediated cytotoxicity; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and protein phosphorylation. Located in cell surface. Is active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DAP10; DKFZP586C1522; DNAX-activation protein 10; KAP10; kinase assoc pro of ~10kDa; kinase assoc protein; membrane protein DAP10; phosphoinositide-3-kinase adaptor protein; PIK3AP; transmembrane adapter protein KAP10

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	35,902,529 - 35,904,377 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	35,902,529 - 35,904,377 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	36,393,431 - 36,395,279 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	41,085,222 - 41,087,013 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	41,085,221 - 41,087,013	NCBI
Celera	19	33,107,573 - 33,109,364 (+)	NCBI		Celera
Cytogenetic Map	19	q13.12	NCBI
HuRef	19	32,898,627 - 32,900,418 (+)	NCBI		HuRef
CHM1_1	19	36,394,675 - 36,396,466 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	38,448,294 - 38,450,142 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Brugada syndrome 5 (IAGP)

hereditary spastic paraplegia 75 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

aristolochic acid A (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

butanal (EXP)

CGP 52608 (EXP)

choline (ISO)

chromium(6+) (ISO)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

diuron (EXP)

fenpyroximate (EXP)

folic acid (ISO)

genistein (EXP)

glycidol (ISO)

L-methionine (ISO)

lidocaine (ISO)

methimazole (ISO)

nickel atom (EXP)

nitrofen (ISO)

p-menthan-3-ol (EXP)

paracetamol (ISO)

pirinixic acid (ISO)

propanal (EXP)

pyrimidifen (EXP)

rotenone (EXP)

silicon dioxide (ISO)

sunitinib (EXP)

testosterone (ISO)

titanium dioxide (ISO)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

natural killer cell mediated cytotoxicity (IDA)

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IBA,IDA,IEA)

protein phosphorylation (IGI)

regulation of immune response (IEA)

Cellular Component

cell surface (IDA)

membrane (IEA)

plasma membrane (IDA,TAS)

Molecular Function

phosphatidylinositol 3-kinase binding (IBA,IDA,IEA)

protein binding (IPI)

protein-macromolecule adaptor activity (IDA)

signaling receptor binding (IBA,IEA,IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10426994	PMID:10528161	PMID:11015446	PMID:11239445	PMID:11398969	PMID:12426564	PMID:12426565	PMID:12477932	PMID:12740575	PMID:12975309	PMID:15048706	PMID:15294961
PMID:15894612	PMID:16339517	PMID:16582911	PMID:19075187	PMID:19322201	PMID:19329438	PMID:21263069	PMID:21706044	PMID:21789015	PMID:21816829	PMID:21873635	PMID:22438812
PMID:25002577	PMID:26221034	PMID:26439863	PMID:26508790	PMID:31235500	PMID:32296183	PMID:32513696	PMID:32814053	PMID:33153411	PMID:33961781

Genomics

Comparative Map Data

HCST
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	35,902,529 - 35,904,377 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	35,902,529 - 35,904,377 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	36,393,431 - 36,395,279 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	41,085,222 - 41,087,013 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	41,085,221 - 41,087,013	NCBI
Celera	19	33,107,573 - 33,109,364 (+)	NCBI		Celera
Cytogenetic Map	19	q13.12	NCBI
HuRef	19	32,898,627 - 32,900,418 (+)	NCBI		HuRef
CHM1_1	19	36,394,675 - 36,396,466 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	38,448,294 - 38,450,142 (+)	NCBI		T2T-CHM13v2.0

Hcst
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	30,117,137 - 30,119,279 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	30,117,137 - 30,119,279 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	30,417,712 - 30,419,854 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	30,417,712 - 30,419,854 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	31,202,731 - 31,204,873 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	30,126,566 - 30,128,506 (-)	NCBI		MGSCv36	mm8
Celera	7	25,009,424 - 25,011,566 (-)	NCBI		Celera
Cytogenetic Map	7	B1	NCBI
cM Map	7	17.45	NCBI

Hcst
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	94,804,429 - 94,806,661 (-)	NCBI		GRCr8
mRatBN7.2	1	85,676,976 - 85,679,083 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	85,676,979 - 85,679,012 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	91,092,795 - 91,094,827 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	99,560,032 - 99,562,065 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	92,851,060 - 92,853,092 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	88,879,425 - 88,881,653 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	88,879,428 - 88,881,460 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	90,035,099 - 90,037,271 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	85,369,349 - 85,371,383 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	85,447,460 - 85,449,494 (-)	NCBI
Celera	1	80,049,152 - 80,051,187 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

HCST
(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	20	41,897,740 - 41,902,675 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	43,884,029 - 43,887,476 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	32,817,826 - 32,821,149 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	41,567,234 - 41,570,544 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	41,568,739 - 41,570,544 (+)	Ensembl	panpan1.1		panPan2

HCST
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	116,760,605 - 116,763,355 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	116,760,714 - 116,762,024 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	116,166,169 - 116,169,228 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	117,363,784 - 117,366,843 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	117,363,893 - 117,365,203 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	116,927,340 - 116,930,399 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	116,550,872 - 116,553,931 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	117,606,637 - 117,609,694 (-)	NCBI		UU_Cfam_GSD_1.0

Hcst
(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_024409349	11,181,369 - 11,185,007 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	460,986 - 462,269 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	460,890 - 462,354 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HCST
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	6	45,304,744 - 45,309,048 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	40,707,447 - 40,711,722 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Pig Cytomap	6	q21	NCBI

HCST
(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	6	30,810,874 - 30,816,547 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666073	8,605,509 - 8,609,341 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in HCST
3 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	copy number loss	See cases [RCV000135879]	Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	copy number loss	See cases [RCV000136794]	Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	copy number loss	See cases [RCV000511504]	Chr19:36147111..37249653 [GRCh37] Chr19:19q13.12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	copy number loss	Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768]	Chr19:35111811..37744992 [GRCh37] Chr19:19q13.11-13.12	pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NC_000019.9:g.(?_33167170)_(36643309_?)dup	duplication	Hereditary spastic paraplegia 75 [RCV003107659]	Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12	uncertain significance
NC_000019.10:g.35904362dup	duplication	not provided [RCV001638648]	Chr19:35904357..35904358 [GRCh38] Chr19:36395259..36395260 [GRCh37] Chr19:19q13.12	benign
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	copy number gain	not provided [RCV001833065]	Chr19:36019064..36516110 [GRCh37] Chr19:19q13.12	uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	copy number gain	Specific learning disability [RCV001801194]	Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2	pathogenic
NC_000019.9:g.(?_35521725)_(36643309_?)del	deletion	Brugada syndrome 5 [RCV001910265]	Chr19:35521725..36643309 [GRCh37] Chr19:19q13.12	uncertain significance
NM_014266.4(HCST):c.124T>C (p.Cys42Arg)	single nucleotide variant	not specified [RCV004194394]	Chr19:35903786 [GRCh38] Chr19:36394688 [GRCh37] Chr19:19q13.12	uncertain significance
NM_014266.4(HCST):c.125G>A (p.Cys42Tyr)	single nucleotide variant	not specified [RCV004286936]	Chr19:35903787 [GRCh38] Chr19:36394689 [GRCh37] Chr19:19q13.12	uncertain significance
GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	copy number gain	not provided [RCV003485199]	Chr19:36312941..36751702 [GRCh37] Chr19:19q13.12	uncertain significance
Single allele	deletion	not provided [RCV003448708]	Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12	pathogenic
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	copy number gain	not specified [RCV003986115]	Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2	pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	copy number loss	not provided [RCV004577477]	Chr19:35223021..36895699 [GRCh37] Chr19:19q13.11-13.12	pathogenic
NM_014266.4(HCST):c.20T>A (p.Ile7Asn)	single nucleotide variant	not specified [RCV004399420]	Chr19:35902613 [GRCh38] Chr19:36393515 [GRCh37] Chr19:19q13.12	uncertain significance
NM_014266.4(HCST):c.35T>C (p.Leu12Ser)	single nucleotide variant	not specified [RCV004627598]	Chr19:35902628 [GRCh38] Chr19:36393530 [GRCh37] Chr19:19q13.12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	444
Count of miRNA genes:	277
Interacting mature miRNAs:	283
Transcripts:	ENST00000246551, ENST00000437550
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

Markers in Region

D19S844E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	36,395,329 - 36,395,421	UniSTS	GRCh37
Build 36	19	41,087,169 - 41,087,261	RGD	NCBI36
Celera	19	33,109,520 - 33,109,612	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	32,900,574 - 32,900,666	UniSTS

A006G29

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	36,395,313 - 36,395,490	UniSTS	GRCh37
Build 36	19	41,087,153 - 41,087,330	RGD	NCBI36
Celera	19	33,109,504 - 33,109,681	RGD
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	32,900,558 - 32,900,735	UniSTS
GeneMap99-GB4 RH Map	19	214.34	UniSTS

G32347

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	36,395,313 - 36,395,490	UniSTS	GRCh37
Celera	19	33,109,504 - 33,109,681	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
HuRef	19	32,900,558 - 32,900,735	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2421	2765	2248	4942	1724	2318	5	622	1946	463	2246	7256	6460	52	3727	1	846	1732	1586	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001007469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054319594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054319595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AD000864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF072844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF072845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF122904	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF172929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF285447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY359058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000246551 ⟹ ENSP00000246551

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	35,902,529 - 35,904,377 (+)	Ensembl

Ensembl Acc Id:

ENST00000437550 ⟹ ENSP00000400516

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	35,902,538 - 35,904,270 (+)	Ensembl

RefSeq Acc Id:

NM_001007469 ⟹ NP_001007470

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,529 - 35,904,271 (+)	NCBI
GRCh37	19	36,393,382 - 36,395,173 (+)	ENTREZGENE
Build 36	19	41,085,222 - 41,087,013 (+)	NCBI Archive
HuRef	19	32,898,627 - 32,900,418 (+)	ENTREZGENE
CHM1_1	19	36,394,675 - 36,396,466 (+)	NCBI
T2T-CHM13v2.0	19	38,448,294 - 38,450,036 (+)	NCBI

Sequence:

show sequence

ACAGTTCCTCTGGACTTCTCTGGACCACAGTCCTCTGCCAGACCCCTGCCAGACCCCAGTCCAC
CATGATCCATCTGGGTCACATCCTCTTCCTGCTTTTGCTCCCAGTGGCTGCAGCTCAGACGACT
CCAGGAGAGAGATCATCACTCCCTGCCTTTTACCCTGGCACTTCAGGCTCTTGTTCCGGATGTG
GGTCCCTCTCTCTGCCGCTCCTGGCAGGCCTCGTGGCTGCTGATGCGGTGGCATCGCTGCTCAT
CGTGGGGGCGGTGTTCCTGTGCGCACGCCCACGCCGCAGCCCCGCCCAAGATGGCAAAGTCTAC
ATCAACATGCCAGGCAGGGGCTGACCCTCCTGCAGCTTGGACCTTTGACTTCTGACCCTCTCAT
CCTGGATGGTGTGTGGTGGCACAGGAACCCCCGCCCCAACTTTTGGATTGTAATAAAACAATTG
AAACACC

hide sequence

RefSeq Acc Id:

NM_014266 ⟹ NP_055081

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,529 - 35,904,377 (+)	NCBI
GRCh37	19	36,393,382 - 36,395,173 (+)	ENTREZGENE
Build 36	19	41,085,222 - 41,087,013 (+)	NCBI Archive
HuRef	19	32,898,627 - 32,900,418 (+)	ENTREZGENE
CHM1_1	19	36,394,675 - 36,396,466 (+)	NCBI
T2T-CHM13v2.0	19	38,448,294 - 38,450,142 (+)	NCBI

Sequence:

show sequence

ACAGTTCCTCTGGACTTCTCTGGACCACAGTCCTCTGCCAGACCCCTGCCAGACCCCAGTCCAC
CATGATCCATCTGGGTCACATCCTCTTCCTGCTTTTGCTCCCAGTGGCTGCAGCTCAGACGACT
CCAGGAGAGAGATCATCACTCCCTGCCTTTTACCCTGGCACTTCAGGCTCTTGTTCCGGATGTG
GGTCCCTCTCTCTGCCGCTCCTGGCAGGCCTCGTGGCTGCTGATGCGGTGGCATCGCTGCTCAT
CGTGGGGGCGGTGTTCCTGTGCGCACGCCCACGCCGCAGCCCCGCCCAAGAAGATGGCAAAGTC
TACATCAACATGCCAGGCAGGGGCTGACCCTCCTGCAGCTTGGACCTTTGACTTCTGACCCTCT
CATCCTGGATGGTGTGTGGTGGCACAGGAACCCCCGCCCCAACTTTTGGATTGTAATAAAACAA
TTGAAACACCTGTAGTCGTATTCTTTCTCAAAGAACCCCAGAGTTCCCAAAGCCTCCCTCCCAT
GAACTGTTTCTGGATCCAAGGCCCCCTCAGAACCCCCACATGTCCCCATCCC

hide sequence

RefSeq Acc Id:

XM_017026193 ⟹ XP_016881682

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,529 - 35,904,377 (+)	NCBI

Sequence:

show sequence

ATTCCCACTTGGACCAGGCCAGCAGCCTCCCTGGTCTCTCTGACCCTCCCCCTGAGTTCGTTCA
CCAAAGGCAGTAACGGAGACACCCCCTCAACACACACAGGAAGCAGATGGCCTTGACACCAGCA
GGGTGACATCCGCTATTGCTACTTCTCTGCTCCCCCACAGTTCCTCTGGACTTCTCTGGACCAC
AGTCCTCTGCCAGACCCCTGCCAGACCCCAGTCCACCATGATCCATCTGGGTCACATCCTCTTC
CTGCTTTTGCTCCCAGTGGCTGCAGCTCAGACGACTCCAGGAGAGAGATCATCACTCCCTGCCT
TTTACCCTGGCACTTCAGCGCAACTCCAAGGAACCTGGGACCCGCCCCCTCGCAGGGGACTTCC
TCTCTGCCTGTGGCCAAAGCACAGCCCCAGGACGCAGAGCTTGAGTTGTCTCCCTGTTCCGGCC
CCCACTCTCCAGGCTCTTGTTCCGGATGTGGGTCCCTCTCTCTGCCGCTCCTGGCAGGCCTCGT
GGCTGCTGATGCGGTGGCATCGCTGCTCATCGTGGGGGCGGTGTTCCTGTGCGCACGCCCACGC
CGCAGCCCCGCCCAAGAAGATGGCAAAGTCTACATCAACATGCCAGGCAGGGGCTGACCCTCCT
GCAGCTTGGACCTTTGACTTCTGACCCTCTCATCCTGGATGGTGTGTGGTGGCACAGGAACCCC
CGCCCCAACTTTTGGATTGTAATAAAACAATTGAAACACC

hide sequence

RefSeq Acc Id:

XM_047438090 ⟹ XP_047294046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,529 - 35,904,271 (+)	NCBI

RefSeq Acc Id:

XM_054319594 ⟹ XP_054175569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	38,448,294 - 38,450,142 (+)	NCBI

RefSeq Acc Id:

XM_054319595 ⟹ XP_054175570

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	38,448,294 - 38,450,036 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001007470	(Get FASTA)	NCBI Sequence Viewer
	NP_055081	(Get FASTA)	NCBI Sequence Viewer
	XP_016881682	(Get FASTA)	NCBI Sequence Viewer
	XP_047294046	(Get FASTA)	NCBI Sequence Viewer
	XP_054175569	(Get FASTA)	NCBI Sequence Viewer
	XP_054175570	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD46986	(Get FASTA)	NCBI Sequence Viewer
	AAD46987	(Get FASTA)	NCBI Sequence Viewer
	AAD47911	(Get FASTA)	NCBI Sequence Viewer
	AAD50293	(Get FASTA)	NCBI Sequence Viewer
	AAG29425	(Get FASTA)	NCBI Sequence Viewer
	AAH35931	(Get FASTA)	NCBI Sequence Viewer
	AAH46348	(Get FASTA)	NCBI Sequence Viewer
	AAH65224	(Get FASTA)	NCBI Sequence Viewer
	AAQ89417	(Get FASTA)	NCBI Sequence Viewer
	CAB43303	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000246551
	ENSP00000246551.3
	ENSP00000400516
	ENSP00000400516.1
GenBank Protein	Q9UBK5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055081 ⟸ NM_014266
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q9UBS1 (UniProtKB/Swiss-Prot), Q9Y3Y0 (UniProtKB/Swiss-Prot), Q9UBK5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIHLGHILFLLLLPVAAAQTTPGERSSLPAFYPGTSGSCSGCGSLSLPLLAGLVAADAVASLLI VGAVFLCARPRRSPAQEDGKVYINMPGRG hide sequence

RefSeq Acc Id:	NP_001007470 ⟸ NM_001007469
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q9UBK5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIHLGHILFLLLLPVAAAQTTPGERSSLPAFYPGTSGSCSGCGSLSLPLLAGLVAADAVASLLI VGAVFLCARPRRSPAQDGKVYINMPGRG hide sequence

RefSeq Acc Id:	XP_016881682 ⟸ XM_017026193
- Peptide Label:	isoform X1
- Sequence:	show sequence MIHLGHILFLLLLPVAAAQTTPGERSSLPAFYPGTSAQLQGTWDPPPRRGLPLCLWPKHSPRTQ SLSCLPVPAPTLQALVPDVGPSLCRSWQASWLLMRWHRCSSWGRCSCAHAHAAAPPKKMAKSTS TCQAGADPPAAWTFDF hide sequence

Ensembl Acc Id:

ENSP00000246551 ⟸ ENST00000246551

Ensembl Acc Id:

ENSP00000400516 ⟸ ENST00000437550

RefSeq Acc Id:	XP_047294046 ⟸ XM_047438090
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054175569 ⟸ XM_054319594
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054175570 ⟸ XM_054319595
- Peptide Label:	isoform X2

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UBK5-F1-model_v2	AlphaFold	Q9UBK5	1-93	view protein structure

Promoters

RGD ID:

7239607

Promoter ID:

EPDNEW_H25549

Type:

initiation region

Name:

HCST_5

Description:

hematopoietic cell signal transducer

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25550 EPDNEW_H25552 EPDNEW_H25553 EPDNEW_H25554

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,899,017 - 35,899,077	EPDNEW

RGD ID:

7239609

Promoter ID:

EPDNEW_H25550

Type:

initiation region

Name:

HCST_2

Description:

hematopoietic cell signal transducer

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25549 EPDNEW_H25552 EPDNEW_H25553 EPDNEW_H25554

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,899,863 - 35,899,923	EPDNEW

RGD ID:

7239613

Promoter ID:

EPDNEW_H25552

Type:

initiation region

Name:

HCST_4

Description:

hematopoietic cell signal transducer

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25549 EPDNEW_H25550 EPDNEW_H25553 EPDNEW_H25554

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,900,623 - 35,900,683	EPDNEW

RGD ID:

7239615

Promoter ID:

EPDNEW_H25553

Type:

initiation region

Name:

HCST_3

Description:

hematopoietic cell signal transducer

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25549 EPDNEW_H25550 EPDNEW_H25552 EPDNEW_H25554

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,365 - 35,902,425	EPDNEW

RGD ID:

7239617

Promoter ID:

EPDNEW_H25554

Type:

initiation region

Name:

HCST_1

Description:

hematopoietic cell signal transducer

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H25549 EPDNEW_H25550 EPDNEW_H25552 EPDNEW_H25553

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	35,902,529 - 35,902,589	EPDNEW

RGD ID:

6795856

Promoter ID:

HG_KWN:29699

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000246551, ENST00000352614, NM_001007469

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	41,084,786 - 41,085,302 (-)	MPROMDB

RGD ID:

6814640

Promoter ID:

HG_XEF:4028

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour

Transcripts:

NM_001005900

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	41,086,351 - 41,086,851 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16977	AgrOrtholog
COSMIC	HCST	COSMIC
Ensembl Genes	ENSG00000126264	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000246551	ENTREZGENE
	ENST00000246551.9	UniProtKB/Swiss-Prot
	ENST00000437550	ENTREZGENE
	ENST00000437550.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000126264	GTEx
HGNC ID	HGNC:16977	ENTREZGENE
Human Proteome Map	HCST	Human Proteome Map
InterPro	HCST	UniProtKB/Swiss-Prot
KEGG Report	hsa:10870	UniProtKB/Swiss-Prot
NCBI Gene	10870	ENTREZGENE
OMIM	604089	OMIM
PANTHER	HEMATOPOIETIC CELL SIGNAL TRANSDUCER	UniProtKB/Swiss-Prot
	PTHR21409	UniProtKB/Swiss-Prot
Pfam	DAP10	UniProtKB/Swiss-Prot
PharmGKB	PA134956649	PharmGKB
UniProt	HCST_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9UBS1	ENTREZGENE
	Q9Y3Y0	ENTREZGENE
UniProt Secondary	Q9UBS1	UniProtKB/Swiss-Prot
	Q9Y3Y0	UniProtKB/Swiss-Prot

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar