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

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; AllianceGenome:HGNC:23843
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: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (69829660..69881384)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (69841928..69893666)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (70056792..70108516)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dual association of GAGE family members with GCL at the nuclear envelope inner membrane in cells, and with dsDNA in vitro, implicate GAGE proteins in chromatin regulation in germ cells and cancer cells.
Title: GAGE cancer-germline antigens are recruited to the nuclear envelope by germ cell-less (GCL).
Mouse GMCL1 interacts with the DP component of the E2F transcription factor.
Title: Integration of a growth-suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor.
Germ cell-less protein is not essential for the chromosomal events of meiosis but might be involved in later aspects of spermatogenesis.
Title: Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment.
mGCL-1 is a factor modulating MDM2-p53 axis by enhanced degradation of MDM2
Title: Enhanced degradation of MDM2 by a nuclear envelope component, mouse germ cell-less.
GCL binds directly to emerin, and the emerin-repressor complexes might be regulated by barrier to autointegration factor
Title: Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro.

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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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Markers

SHGC-81443 (e-PCR)
- UniSTS:103198

D2S1355 (e-PCR)
- UniSTS:34619

RH94326 (e-PCR)
- UniSTS:91743

RH47521 (e-PCR)
- UniSTS:66212

RH118924 (e-PCR)
- UniSTS:138926

D2S2904 (e-PCR)
- UniSTS:19904

SHGC-32890 (e-PCR)
- UniSTS:62947

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

General protein information

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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)

NM_178439.5 → NP_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, Q9H826, Q9H8V7, Q9H927

UniProtKB/TrEMBL

Q53SE7

Related

ENSP00000282570.3, ENST00000282570.4

Conserved Domains (2) summary

smart00875
Location:213 → 283

BACK; BTB And C-terminal Kelch

pfam00651
Location:98 → 207

BTB; BTB/POZ domain

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

69829660..69881384

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533033.3 → XP_011531335.1 germ cell-less protein-like 1 isoform X1

Conserved Domains (3) summary

smart00225
Location:109 → 206

BTB; Broad-Complex, Tramtrack and Bric a brac

smart00875
Location:213 → 283

BACK; BTB And C-terminal Kelch

pfam00651
Location:98 → 205

BTB; BTB/POZ domain
XM_011533034.3 → XP_011531336.1 germ cell-less protein-like 1 isoform X2

UniProtKB/TrEMBL

Q9HBV8

Conserved Domains (1) summary

smart00875
Location:31 → 101

BACK; BTB And C-terminal Kelch
XM_017004705.2 → XP_016860194.1 germ cell-less protein-like 1 isoform X3

UniProtKB/TrEMBL

Q9HBV8
XM_047445416.1 → XP_047301372.1 germ cell-less protein-like 1 isoform X4

RNA

XR_007079574.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

69841928..69893666

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343375.1 → XP_054199350.1 germ cell-less protein-like 1 isoform X1
XM_054343376.1 → XP_054199351.1 germ cell-less protein-like 1 isoform X2

UniProtKB/TrEMBL

Q9HBV8
XM_054343377.1 → XP_054199352.1 germ cell-less protein-like 1 isoform X3

UniProtKB/TrEMBL

Q9HBV8
XM_054343378.1 → XP_054199353.1 germ cell-less protein-like 1 isoform X4