CABYR calcium binding tyrosine phosphorylation regulated [Homo sapiens (human)] - Gene

Summary

Official Symbol: CABYRprovided by HGNC
Official Full Name: calcium binding tyrosine phosphorylation regulatedprovided by HGNC
Primary source: HGNC:HGNC:15569
See related: Ensembl:ENSG00000154040 MIM:612135; AllianceGenome:HGNC:15569
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: CT88; FSP2; CBP86; FSP-2; CABYRa; CABYRc; CABYRe; CABYRc/d
Summary: To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Expression: Restricted expression toward testis (RPKM 117.5) See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (24139062..24161600)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (24333387..24355939)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (21719026..21741564)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Upregulated calcium-binding tyrosine phosphorylation-regulated protein-a/b regulates cell proliferation and apoptosis and predicts poor prognosis in hepatocellular carcinoma.
Title: Upregulated calcium-binding tyrosine phosphorylation-regulated protein-a/b regulates cell proliferation and apoptosis and predicts poor prognosis in hepatocellular carcinoma.
Study of (Co-IP) and reverse co-immunoprecipitation (Co-IP) of CBP86-IV (TSCBP86-IV or CABYR) in human sperm cell lysate identified phosphoglycerate kinase 2 (PGK2) as interacting partner of CABYR. Protein interactions were further confirmed by yeast two-hybrid system.
Title: Testis-specific calcium-binding protein CBP86-IV (CABYR) binds with phosphoglycerate kinase 2 in vitro and in vivo experiment.
There is downregulation of both ROPN1 and CABYR in asthenozoospermic samples and importantly, a positive correlation between the expression of the two genes, suggesting that ROPN1 and CABYR co-expression is a prerequisite for normal flagellar function and sperm motility.
Title: Molecular study of human sperm RNA: Ropporin and CABYR in asthenozoospermia.
Low CABYR expression is associated with colon cancer.
Title: Identification of downstream metastasis-associated target genes regulated by LSD1 in colon cancer cells.
The results demonstrate that depletion of CABYR-a/b sensitizes lung cancer cells to TRAIL-induced apoptosis through YAP/p73-mediated DR5 upregulation.
Title: Depletion of CABYR-a/b sensitizes lung cancer cells to TRAIL-induced apoptosis through YAP/p73-mediated DR5 upregulation.
Short hairpin RNA-mediated knockdown of CABYR-a/b significantly inhibited the proliferation of NCI-H460 and A549 cells and resulted in the attenuation of Akt phosphorylation, which is constitutively active in lung cancer cells.
Title: Knockdown of CABYR-a/b increases chemosensitivity of human non-small cell lung cancer cells through inactivation of Akt.
CABYR-c is highly expressed in hepatocellular carcinoma tissues and may play an oncogenic role in heptocarcinogenesis as well as its progression.
Title: The expression and effects the CABYR-c transcript of CABYR gene in hepatocellular carcinoma.
CABYR variants form a complex not only with the scaffolding protein AKAP3 but also with another RII-like domain-containing protein in the sperm fibrous sheath.
Title: CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath.
High CABYR is associated with neoplasms.
Title: Expression of the sperm fibrous sheath protein CABYR in human cancers and identification of α-enolase as an interacting partner of CABYR-a.
The expression of NF-kappaB was not significantly affected by silencing CABYR in 293T cells.
Title: CABYR RNAi plasmid construction and NF-κB signal transduction pathway.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

RH103515 (e-PCR)
- UniSTS:97840

RH79977 (e-PCR)
- UniSTS:91774

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	NAS Non-traceable Author Statement more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme 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 epithelial cilium movement involved in extracellular fluid movement	NAS Non-traceable Author Statement more info	PubMed
involved_in sperm capacitation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
is_active_in sperm fibrous sheath	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm fibrous sheath	IDA Inferred from Direct Assay more info	PubMed
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 tyrosine phosphorylation-regulated protein

Names: calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2); calcium-binding protein 86; cancer/testis antigen 88; fibrousheathin II; fibrousheathin-2; testis tissue sperm-binding protein Li 84P; testis-specific calcium-binding protein CBP86

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_001308231.2 → NP_001295160.1 calcium-binding tyrosine phosphorylation-regulated protein isoform f

See identical proteins and their annotated locations for NP_001295160.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks two lacks two alternate exons in the 5' coding region, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (f) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC090772, AK225858, AK301889

Consensus CDS

CCDS77166.1

UniProtKB/TrEMBL

A0A0D9SFQ2, E2ITE0

Related

ENSP00000486801.1, ENST00000627314.1
NM_012189.4 → NP_036321.2 calcium-binding tyrosine phosphorylation-regulated protein isoform a

See identical proteins and their annotated locations for NP_036321.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein isoform (a).

Source sequence(s)

AF088868, AK225858, AK313243, BC011996, DB055487

Consensus CDS

CCDS11881.1

UniProtKB/Swiss-Prot

B2R857, O75952, Q8WXW5, Q9HAY3, Q9HAY4, Q9HAY5, Q9HCY9

UniProtKB/TrEMBL

A0A024RC21, E2ITE0

Related

ENSP00000483621.1, ENST00000621648.4

Conserved Domains (2) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17

cl26247
Location:214 → 414

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_138643.3 → NP_619584.1 calcium-binding tyrosine phosphorylation-regulated protein isoform d

See identical proteins and their annotated locations for NP_619584.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two internal exons in the 5' region, which results in a downstream translation start codon, and has an alternate splice site in the coding region, which results in a downstream translation stop codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AF295038, AK225858, BC011996, DB055487

Consensus CDS

CCDS11883.1

UniProtKB/Swiss-Prot

O75952

Related

ENSP00000317095.6, ENST00000327201.10
NM_138644.3 → NP_619585.1 calcium-binding tyrosine phosphorylation-regulated protein isoform c

See identical proteins and their annotated locations for NP_619585.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' UTR exon and an alternate splice site in the coding region, which results in a downstream translation stop codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus compared to isoform a. Variants 3 and 7 encode the same isoform c.

Source sequence(s)

AF295037, AK225858, BC011996, HY051562

Consensus CDS

CCDS42420.1

UniProtKB/TrEMBL

E2ITE2

Related

ENSP00000382421.1, ENST00000399499.5

Conserved Domains (1) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17
NM_153768.3 → NP_722452.1 calcium-binding tyrosine phosphorylation-regulated protein isoform b

See identical proteins and their annotated locations for NP_722452.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) lacks an internal segment in the N-terminal region, compared to isoform a.

Source sequence(s)

AF329634, AK225858, AK313243, BC011996

Consensus CDS

CCDS11882.1

UniProtKB/TrEMBL

E2ITE0

Related

ENSP00000382404.3, ENST00000399481.6

Conserved Domains (1) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17
NM_153769.3 → NP_722453.1 calcium-binding tyrosine phosphorylation-regulated protein isoform c

See identical proteins and their annotated locations for NP_722453.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) has an alternate splice site in the coding region, which results in a downstream translation stop codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a. Variants 3 and 7 encode the same isoform c.

Source sequence(s)

AK225858, BC011996, DB055487

Consensus CDS

CCDS42420.1

UniProtKB/TrEMBL

E2ITE2

Related

ENSP00000382419.3, ENST00000399496.8

Conserved Domains (1) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17
NM_153770.3 → NP_722454.1 calcium-binding tyrosine phosphorylation-regulated protein isoform e

See identical proteins and their annotated locations for NP_722454.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) has a alternate splice junction in the coding region, which results in a downstream translation stop codon, compared to variant 1. The encoded isoform (e) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AF295039, BC011996, DB055487

Consensus CDS

CCDS45840.1

UniProtKB/Swiss-Prot

O75952

Related

ENSP00000399973.2, ENST00000415309.6

Conserved Domains (1) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

24139062..24161600

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258247.2 → XP_005258304.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X3

UniProtKB/TrEMBL

E2ITE2

Conserved Domains (1) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17
XM_024451160.2 → XP_024306928.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X1

UniProtKB/Swiss-Prot

B2R857, O75952, Q8WXW5, Q9HAY3, Q9HAY4, Q9HAY5, Q9HCY9

UniProtKB/TrEMBL

A0A024RC21, E2ITE0

Conserved Domains (2) summary

cd12100
Location:10 → 48

DD_CABYR_SP17; Dimerization/Docking domain of the sperm fibrous sheath proteins, Calcium-Binding tYrosine-phosphorylation Regulated protein and Sperm Protein 17

cl26247
Location:214 → 414

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_047437482.1 → XP_047293438.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X2

UniProtKB/TrEMBL

A0A0D9SFQ2, E2ITE0

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

24333387..24355939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318523.1 → XP_054174498.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X1

UniProtKB/TrEMBL

E2ITE0
XM_054318525.1 → XP_054174500.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X3

UniProtKB/TrEMBL

E2ITE2
XM_054318524.1 → XP_054174499.1 calcium-binding tyrosine phosphorylation-regulated protein isoform X2

UniProtKB/TrEMBL

B4DXA8, E2ITE0