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

    Gene ID: 136263, updated on 10-Dec-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 located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 13.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SSMEM1 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130205410..130216844)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131518800..131530235)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    4. 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
    5. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901

    See all (11) 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)

    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_2024_08

    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

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