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GMCL1 germ cell-less 1, spermatogenesis associated [ Homo sapiens (human) ]

Gene ID: 64395, updated on 8-Jul-2021

Summary

Official Symbol
GMCL1provided by HGNC
Official Full Name
germ cell-less 1, spermatogenesis associatedprovided by HGNC
Primary source
HGNC:HGNC:23843
See related
Ensembl:ENSG00000087338 MIM:618627
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCL; GCL1; BTBD13; SPATA29
Summary
This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 10.7), duodenum (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See GMCL1 in Genome Data Viewer
Location:
2p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (69829660..69881389)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70056792..70108516)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene AP2 associated kinase 1 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 Neighboring gene annexin A4 Neighboring gene MANTIS Neighboring gene ribosomal protein L23a pseudogene 92 Neighboring gene Sharpr-MPRA regulatory region 10436 Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27 Neighboring gene MAX dimerization protein 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in germ cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
germ cell-less protein-like 1
Names
germ cell-less homolog 1
germ cell-less, spermatogenesis associated 1
spermatogenesis associated 29
spermatogenesis-associated protein 29

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_178439.5NP_848526.1  germ cell-less protein-like 1

    See identical proteins and their annotated locations for NP_848526.1

    Status: REVIEWED

    Source sequence(s)
    AC019206, AI093913, BC007420, BI550798
    Consensus CDS
    CCDS1895.1
    UniProtKB/Swiss-Prot
    Q96IK5
    UniProtKB/TrEMBL
    Q53SE7
    Related
    ENSP00000282570.3, ENST00000282570.4
    Conserved Domains (2) summary
    smart00875
    Location:213283
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:98207
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    69829660..69881389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533033.2XP_011531335.1  germ cell-less protein-like 1 isoform X1

    Conserved Domains (3) summary
    smart00225
    Location:109206
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:213283
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:98205
    BTB; BTB/POZ domain
  2. XM_011533034.2XP_011531336.1  germ cell-less protein-like 1 isoform X2

    Conserved Domains (1) summary
    smart00875
    Location:31101
    BACK; BTB And C-terminal Kelch
  3. XM_017004704.2XP_016860193.1  germ cell-less protein-like 1 isoform X2

    Conserved Domains (1) summary
    smart00875
    Location:31101
    BACK; BTB And C-terminal Kelch
  4. XM_017004705.1XP_016860194.1  germ cell-less protein-like 1 isoform X3

RNA

  1. XR_001738895.2 RNA Sequence

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