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SSMEM1 serine rich single-pass membrane protein 1 [ Homo sapiens (human) ]

Gene ID: 136263, updated on 7-Apr-2024

Summary

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Official Symbol
SSMEM1provided by HGNC
Official Full Name
serine rich single-pass membrane protein 1provided by HGNC
Primary source
HGNC:HGNC:29580
See related
Ensembl:ENSG00000165120 AllianceGenome:HGNC:29580
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C7orf45
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 13.0) See more
Orthologs
mouse all
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Genomic context

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Location:
7q32.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130205410..130216844)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131518800..131530235)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129847700..129856684)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129781469-129782132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26648 Neighboring gene long intergenic non-protein coding RNA 3008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18644 Neighboring gene transmembrane protein 209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26649 Neighboring gene uncharacterized LOC124901745 Neighboring gene Sharpr-MPRA regulatory region 12451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129844685-129845484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129912168-129912820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129912821-129913472 Neighboring gene Sharpr-MPRA regulatory region 5425 Neighboring gene carboxypeptidase A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129937306-129937806 Neighboring gene carboxypeptidase A4 Neighboring gene uncharacterized LOC105375503 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Knockout of serine-rich single-pass membrane protein 1 (Ssmem1) causes globozoospermia and sterility in male mice†. Nozawa K, et al. Biol Reprod, 2020 Aug 4. PMID 32301969, Free PMC Article
  2. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ40316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serine-rich single-pass membrane protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_145268.4 → NP_660311.1  serine-rich single-pass membrane protein 1

    See identical proteins and their annotated locations for NP_660311.1

    Status: VALIDATED

    Source sequence(s)
    AC024085, AC087071, BC017587
    Consensus CDS
    CCDS5816.1
    UniProtKB/Swiss-Prot
    Q8WWF3
    UniProtKB/TrEMBL
    A4D1L0
    Related
    ENSP00000297819.3, ENST00000297819.4
    Conserved Domains (1) summary
    pfam15468
    Location:1 → 243
    DUF4636; Domain of unknown function (DUF4636)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    130205410..130216844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515795.3 → XP_011514097.1  serine-rich single-pass membrane protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011514097.1

    UniProtKB/TrEMBL
    A0A3B3ISA2
    Related
    ENSP00000497213.1, ENST00000648806.1
    Conserved Domains (1) summary
    pfam15468
    Location:1 → 182
    DUF4636; Domain of unknown function (DUF4636)

  2. XM_005250141.5 → XP_005250198.1  serine-rich single-pass membrane protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005250198.1

    UniProtKB/TrEMBL
    A0A3B3ISA2
    Conserved Domains (1) summary
    pfam15468
    Location:1 → 182
    DUF4636; Domain of unknown function (DUF4636)

  3. XM_011515794.3 → XP_011514096.1  serine-rich single-pass membrane protein 1 isoform X1

    Conserved Domains (1) summary
    pfam15468
    Location:5 → 186
    DUF4636; Domain of unknown function (DUF4636)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    131518800..131530235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357240.1 → XP_054213215.1  serine-rich single-pass membrane protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A3B3ISA2

  2. XM_054357239.1 → XP_054213214.1  serine-rich single-pass membrane protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A3B3ISA2

  3. XM_054357238.1 → XP_054213213.1  serine-rich single-pass membrane protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWF3.1 GenPept UniProtKB/Swiss-Prot:Q8WWF3

Gene LinkOut

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