Samm50 (SAMM50 sorting and assembly machinery component)

Gene: Samm50 (SAMM50 sorting and assembly machinery component) Chinchilla lanigera

Analyze

Symbol:

Samm50

Name:

SAMM50 sorting and assembly machinery component

RGD ID:

8705314

Description:

INVOLVED IN cristae formation (ortholog); mitochondrial respiratory chain complex assembly (ortholog); protein insertion into mitochondrial outer membrane (ortholog); PARTICIPATES IN beta-barrel pathway of mitochondrial protein import; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); metabolic dysfunction-associated steatotic liver disease (ortholog); FOUND IN membrane (ortholog); mitochondrial outer membrane (ortholog); mitochondrion (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

sorting and assembly machinery component 50 homolog

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	28,901,124 - 28,925,093 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	28,901,124 - 28,925,093 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (ISO)

intellectual disability (ISO)

metabolic dysfunction-associated steatotic liver disease (ISO)

Phelan-McDermid syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cristae formation (ISO)

mitochondrial respiratory chain complex assembly (ISO)

protein insertion into mitochondrial outer membrane (ISO)

Cellular Component

membrane (ISO)

mitochondrial outer membrane (ISO)

mitochondrion (ISO)

SAM complex (ISO)

Molecular Function

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

beta-barrel pathway of mitochondrial protein import (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Samm50
(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_004955413	28,901,124 - 28,925,093 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	28,901,124 - 28,925,093 (+)	NCBI	ChiLan1.0	ChiLan1.0

SAMM50
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	43,955,442 - 43,996,529 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	43,955,442 - 44,010,531 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	44,351,322 - 44,392,409 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	42,682,634 - 42,723,745 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	28,262,860 - 28,304,013 (+)	NCBI		Celera
Cytogenetic Map	22	q13.31	NCBI
HuRef	22	27,305,853 - 27,346,273 (+)	NCBI		HuRef
CHM1_1	22	44,309,992 - 44,351,172 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	44,438,587 - 44,480,322 (+)	NCBI		T2T-CHM13v2.0

Samm50
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	84,076,441 - 84,100,284 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	84,076,442 - 84,101,468 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	84,192,240 - 84,216,083 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	84,192,241 - 84,217,267 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	84,022,663 - 84,044,733 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	84,020,006 - 84,043,843 (+)	NCBI		MGSCv36	mm8
Celera	15	86,323,153 - 86,345,226 (+)	NCBI		Celera
Cytogenetic Map	15	E2	NCBI
cM Map	15	39.78	NCBI

Samm50
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	117,197,460 - 117,221,668 (+)	NCBI		GRCr8
mRatBN7.2	7	115,317,472 - 115,341,682 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	115,317,404 - 115,341,682 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	117,065,348 - 117,089,536 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	119,291,076 - 119,315,264 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	119,260,536 - 119,284,726 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	125,058,966 - 125,082,506 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	125,058,897 - 125,082,505 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	125,047,478 - 125,071,018 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	122,176,824 - 122,201,032 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	122,211,053 - 122,235,261 (+)	NCBI
Celera	7	111,623,449 - 111,647,630 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

SAMM50
(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	23	53,781,582 - 53,825,655 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	56,476,480 - 56,518,165 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	24,844,400 - 24,886,056 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	43,035,981 - 43,076,975 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	43,035,981 - 43,076,977 (+)	Ensembl	panpan1.1		panPan2

PARVB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	21,549,654 - 21,629,771 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	21,551,998 - 21,640,781 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	21,492,217 - 21,589,726 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	22,300,594 - 22,397,773 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	22,299,169 - 22,397,976 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	22,019,817 - 22,117,314 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	22,340,152 - 22,437,648 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	22,513,879 - 22,611,416 (-)	NCBI		UU_Cfam_GSD_1.0

Samm50
(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_024404945	5,311,710 - 5,337,171 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936718	1,642,970 - 1,668,536 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936718	1,642,994 - 1,668,458 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SAMM50
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	5,035,895 - 5,071,277 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	5,035,893 - 5,072,550 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SAMM50
(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	19	26,467,319 - 26,509,695 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	26,467,278 - 26,510,168 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	98,895,141 - 98,937,561 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Samm50
(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_004624752	5,136,570 - 5,152,864 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	5,136,487 - 5,152,557 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005379452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01014572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDF01046690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000025329 ⟹ ENSCLAP00000025084

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955413	28,901,124 - 28,925,093 (+)	Ensembl

RefSeq Acc Id:

XM_005379452 ⟹ XP_005379509

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955413	28,901,124 - 28,925,093 (+)	NCBI

Sequence:

show sequence

GGCACAGGAGGGCAACATGGCTGCCCCCAGTGCGCCGCTTCCGGGGGCTTGTGGGAGTAGCCCT
GACCCGCAGCCGTAGCACCGTGCTCCCTGTGCACTCACCAGCAGAGCCTCGGTCGCGCTCCGCT
AGCTCTGCAAGGCTGCGGCTGCGGAGGGAGCCATGGGGACCGTGCATGCCCGGAGTCTGGAGCC
CCTGCCCGCCAGTGGCCCTGACTTTGGAGGATTAGGCGAAGAAGCTGAATTCCTTGAAGTTGAA
CCTGAAGCTAAACAGGAAATTCTGGAAAACAAAGATGTCGTTGTGCAGCACGTTCATTTTGATG
GACTCGGAAGGACTAAAGATGATATCATCATCTGTGAAATCGGAGAGGTCTTCAAGGCCAAGAA
CCTCATTGAGGTCATGCGGAAATCTCATGAAGCCCGTGAAAAGCTGCTTCGTCTCGGGATCTTT
AGACAAGTGGACGTTTTGATCGATACGTGTCAAGGTGATGACGCACTTCCCAATGGGCTAGATG
TCACCTTTGAAGTGACTGAGTTAAGGAGGTTGACAGGCAGTTACAACACCATGGTCGGAAATAA
CGAAGGCAGCATGGTCCTCGGCCTCAAGCTCCCCAATCTGCTGGGCCGTGCAGAAAAAGTGACT
TTCCAGTTTTCTTATGGCACCAAAGAAACGTCCTACGGCCTGTCCTTCTTCAAACCGCAGCCTG
GGAACTTCGAGAGAAACTTCTCGGTAAACCTGTACAAAGTCACCGGACAGTTCCCGTGGAGCTC
GCTGCGGGAGACGGACCGAGGAGTGTCCGCCGAGTACAGCTTCCCCATATGGAGGACCAGCCAC
ACTGTCAAGTGGGAGGGCGTGTGGCGGGAGCTGGGCTGCCTCTCCAGGACCGCGTCCTTCGCTG
TGCGGAAAGAGAGCGGACACTCGCTGAAGTCGTCGCTCTCGCACGCCATGGTCATCGACTCGCG
GAACTCTTCCATCCTGCCCAAGCGGGGGGCCCTGCTGAAGGTGAACCAGGAACTAGCGGGCTAC
ACTGGCGGGGACGTGAGCTTCCTGAAGGAGGACTTCGAGCTGCAGGTGAACAAGCACCTCGTGT
TGGATTCGGTTGTCTCTGCGTCGCTGTGGGGTGGAATGTTGGTGCCCATCGGGGACAAGCCGTC
CAGCATCGCGGACAGGTTCTGCCTCGGAGGGCCCACCAGTGTCCGCGGATTCGGCATGCACAGC
ATCGGGCCCCAGAGTGAAGGGGACTACCTGGGTGGTGAGGCATACTGGGCCGGAGGCCTACACC
TGTACACCCCGCTGCCCTTCCGGCCAGGCCAGGGTGGCTTCGGAGAGCTTTTCAGAACCCACTT
CTTCCTCAACGCGGGAAACCTCTGCAACCTCAACTACGGGGAGGGCCCCCGAGCCCACATCCGC
AAGCTGGCCGAGTGCATCCGCTGGTCCTACGGCGCCGGCATCGTCCTCCGGCTCGGCAACATCG
CACGGCTGGAGCTGAACTACTGCGTCCCCATGGGCGTGCAGCGGGGCGACAGGATCTGCGACGG
CGTCCAGTTCGGAGCTGGGATAAGGTTCCTGTAGCTGGGCTGCCTCAGGCGTCCGCGCTCCTGG
AACCCTCGCAGCCAAGCGAGCCGGGCCTCGTCCTCGCCAGCAAACGTGTCAATAAATTGTGAGG
ACACATA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005379509	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000025084
	ENSCLAP00000025084.1

RefSeq Acc Id:

XP_005379509 ⟸ XM_005379452

- UniProtKB:

A0A8C2W4M3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGTVHARSLEPLPASGPDFGGLGEEAEFLEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIII
CEIGEVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRL
TGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPQPGNFERNFSVNL
YKVTGQFPWSSLRETDRGVSAEYSFPIWRTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKS
SLSHAMVIDSRNSSILPKRGALLKVNQELAGYTGGDVSFLKEDFELQVNKHLVLDSVVSASLWG
GMLVPIGDKPSSIADRFCLGGPTSVRGFGMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQ
GGFGELFRTHFFLNAGNLCNLNYGEGPRAHIRKLAECIRWSYGAGIVLRLGNIARLELNYCVPM
GVQRGDRICDGVQFGAGIRFL

hide sequence

RefSeq Acc Id:

ENSCLAP00000025084 ⟸ ENSCLAT00000025329

Protein Domains

POTRA

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000017226	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000025329	ENTREZGENE
	ENSCLAT00000025329.1	UniProtKB/TrEMBL
Gene3D-CATH	membrane protein fhac	UniProtKB/TrEMBL
	membrane protein fhac: a member of the omp85/tpsb transporter family	UniProtKB/TrEMBL
InterPro	Bac_surfAg_D15	UniProtKB/TrEMBL
	D15-like	UniProtKB/TrEMBL
	POTRA	UniProtKB/TrEMBL
NCBI Gene	Samm50	ENTREZGENE
PANTHER	PTHR12815	UniProtKB/TrEMBL
	SORTING AND ASSEMBLY MACHINERY COMPONENT 50 HOMOLOG	UniProtKB/TrEMBL
Pfam	Omp85	UniProtKB/TrEMBL
PROSITE	POTRA	UniProtKB/TrEMBL
UniProt	A0A8C2W4M3	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-08-25	Samm50	SAMM50 sorting and assembly machinery component		sorting and assembly machinery component 50 homolog (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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

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