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SPMIP4 sperm microtubule inner protein 4 [ Homo sapiens (human) ]

Gene ID: 136895, updated on 5-Mar-2024

Summary

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Official Symbol
SPMIP4provided by HGNC
Official Full Name
sperm microtubule inner protein 4provided by HGNC
Primary source
HGNC:HGNC:21722
See related
Ensembl:ENSG00000153790 MIM:616071; AllianceGenome:HGNC:21722
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
C7orf31
Summary
Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 25.6), adrenal (RPKM 2.5) and 6 other tissues See more
Orthologs
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Genomic context

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See SPMIP4 in Genome Data Viewer
Location:
7p15.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (25125772..25180354, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (25261042..25315624, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (25174311..25219973, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25760 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:24990225-24990724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:25010975-25011630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25068437-25068938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25098668-25099168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25163804-25164348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25164349-25164892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25768 Neighboring gene uncharacterized LOC124901603 Neighboring gene cytochrome c, somatic Neighboring gene uncharacterized LOC124901602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18024 Neighboring gene uncharacterized LOC105375191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25227953-25228454 Neighboring gene ribosomal protein L7a pseudogene 41

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. LINGO1, C7orf31 and VEGFA are prognostic genes of primary glioblastoma: analysis of gene expression microarray. Liu S, et al. Neoplasma, 2018. PMID 30064229
  2. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
  3. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article
  4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LINGO1 might be a positive primary glioblastoma prognostic gene and C7orf31 and VEGFA might be negative prognosticators.
    Title: LINGO1, C7orf31 and VEGFA are prognostic genes of primary glioblastoma: analysis of gene expression microarray.
Submit: New GeneRIF Correction

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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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sperm-associated microtubule inner protein 4
Names
sperm associated microtubule inner protein 4
uncharacterized protein C7orf31

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_001371351.1 → NP_001358280.1  sperm-associated microtubule inner protein 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC004129
    Consensus CDS
    CCDS5394.1
    UniProtKB/Swiss-Prot
    A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
    Conserved Domains (1) summary
    pfam15093
    Location:1 → 283
    DUF4555; Domain of unknown function (DUF4555)

  2. NM_001371352.1 → NP_001358281.1  sperm-associated microtubule inner protein 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC004129
    Consensus CDS
    CCDS5394.1
    UniProtKB/Swiss-Prot
    A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
    Related
    ENSP00000386604.1, ENST00000409280.5
    Conserved Domains (1) summary
    pfam15093
    Location:1 → 283
    DUF4555; Domain of unknown function (DUF4555)

  3. NM_138811.4 → NP_620166.3  sperm-associated microtubule inner protein 4

    See identical proteins and their annotated locations for NP_620166.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AC004129, BC043269, BC060879, BI830207, BX640851
    Consensus CDS
    CCDS5394.1
    UniProtKB/Swiss-Prot
    A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
    Related
    ENSP00000283905.3, ENST00000283905.8
    Conserved Domains (1) summary
    pfam15093
    Location:1 → 283
    DUF4555; Domain of unknown function (DUF4555)

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
    25125772..25180354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419891.1 → XP_047275847.1  sperm-associated microtubule inner protein 4 isoform X2

  2. XM_011515125.3 → XP_011513427.1  sperm-associated microtubule inner protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011513427.1

    UniProtKB/Swiss-Prot
    Q8N865
    Conserved Domains (1) summary
    pfam15093
    Location:1 → 73
    DUF4555; Domain of unknown function (DUF4555)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    25261042..25315624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357265.1 → XP_054213240.1  sperm-associated microtubule inner protein 4 isoform X2

  2. XM_054357264.1 → XP_054213239.1  sperm-associated microtubule inner protein 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N865.3 GenPept UniProtKB/Swiss-Prot:Q8N865

Gene LinkOut

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