CABS1 calcium binding protein, spermatid associated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CABS1provided by HGNC
Official Full Name: calcium binding protein, spermatid associated 1provided by HGNC
Primary source: HGNC:HGNC:30710
See related: Ensembl:ENSG00000145309 MIM:618600; AllianceGenome:HGNC:30710
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: CLPH; C4orf35; NYD-SP26
Summary: Predicted to enable calcium ion binding activity. Predicted to be involved in flagellated sperm motility and spermatogenesis. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be active in mitochondrial inner membrane and motile cilium. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 46.0) See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (70334981..70337116)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73674478..73676614)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (71200698..71202833)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CABS1 is readily detected in human saliva and is associated with psychological and physiological indicators of stress.
Title: A novel biomarker associated with distress in humans: calcium-binding protein, spermatid-specific 1 (CABS1).
Human CABS1 has a peptide motif homologous to the anti-inflammatory peptide sequence of rat SMR1.
Title: Calcium-binding protein, spermatid-specific 1 is expressed in human salivary glands and contains an anti-inflammatory motif.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm principal piece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: calcium-binding and spermatid-specific protein 1

Names: calcium-binding protein, sperm-specific 1; calcium-binding protein, spermatid-specific 1; casein-like phosphoprotein; testis development protein NYD-SP26

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.