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SPMIP7 sperm microtubule inner protein 7 [ Homo sapiens (human) ]

Gene ID: 100130988, updated on 8-Mar-2024

Summary

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Official Symbol
SPMIP7provided by HGNC
Official Full Name
sperm microtubule inner protein 7provided by HGNC
Primary source
HGNC:HGNC:22564
See related
Ensembl:ENSG00000164500 AllianceGenome:HGNC:22564
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
C7orf72; SPATA48
Expression
Restricted expression toward testis (RPKM 1.9) See more
Orthologs
mouse all
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Genomic context

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Location:
7p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50095883..50159256)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50257048..50320459)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50135479..50198852)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zona pellucida binding protein Neighboring gene G protein nucleolar 2 pseudogene 1 Neighboring gene MPRA-validated peak6516 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50111360-50111860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18176 Neighboring gene uncharacterized LOC124901630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50246159-50247088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50251182-50251682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50251683-50252183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50342269-50342770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50354096-50354596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50356151-50356651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26000 Neighboring gene conserved acetylation island sequence 3 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50427949-50428468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50428469-50428986 Neighboring gene IKAROS family zinc finger 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50446466-50446972 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:50446973-50447478 Neighboring gene uncharacterized LOC124901631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50477534-50478034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26007 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50488572-50489105 Neighboring gene RNA, U6 small nuclear 1091, pseudogene

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. Spermatogenesis-associated 48 is essential for spermatogenesis in mice. Zhang J, et al. Andrologia, 2018 Aug. PMID 29700843
  2. Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced testis weight in mice. L'Hôte D, et al. PLoS One, 2011. PMID 22110678, Free PMC Article
  3. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  4. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis.
    Title: Spermatogenesis-associated 48 is essential for spermatogenesis in mice.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
protein SPMIP7
Names
spermatogenesis associated 48
spermatogenesis-associated protein 48
uncharacterized protein C7orf72

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_001161834.3 → NP_001155306.3  protein SPMIP7

    Status: VALIDATED

    Source sequence(s)
    AC020743, AC034148
    Consensus CDS
    CCDS47585.1
    UniProtKB/Swiss-Prot
    A4D263, A6NDX9
    Related
    ENSP00000297001.7, ENST00000297001.7
    Conserved Domains (1) summary
    pfam15073
    Location:307 → 434
    DUF4540; Domain of unknown function (DUF4540)

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
    50095883..50159256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515052.2 → XP_011513354.1  protein SPMIP7 isoform X1

    Conserved Domains (1) summary
    pfam15073
    Location:307 → 420
    DUF4540; Domain of unknown function (DUF4540)

  2. XM_011515053.3 → XP_011513355.1  protein SPMIP7 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    50257048..50320459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356940.1 → XP_054212915.1  protein SPMIP7 isoform X1

  2. XM_054356941.1 → XP_054212916.1  protein SPMIP7 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4D263.2 GenPept UniProtKB/Swiss-Prot:A4D263

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous