CCDC125 coiled-coil domain containing 125 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC125provided by HGNC
Official Full Name: coiled-coil domain containing 125provided by HGNC
Primary source: HGNC:HGNC:28924
See related: Ensembl:ENSG00000183323 MIM:613781; AllianceGenome:HGNC:28924
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: KENAE
Summary: Enables identical protein binding activity. Involved in activation of GTPase activity; negative regulation of Rho protein signal transduction; and negative regulation of cell motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 4.7), prostate (RPKM 4.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69273039..69332801, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70105918..70158503, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68576002..68628628, complement)

Chromosome 5 - NC_000005.10 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: 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?

These results suggest that the novel gene, Kenae/CCDC125, acts as a regulator of cell motility through RhoA, Rac1 and cdc42.
Title: Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

G63660 (e-PCR)
- UniSTS:140622

G38154 (e-PCR)
- UniSTS:53341

D21S1698 (e-PCR)
- UniSTS:150410

D11S3114 (e-PCR)
- UniSTS:152207

D17S610 (e-PCR)
- UniSTS:46230

L31433 (e-PCR)
- UniSTS:50329

GDB:335751 (e-PCR)
- UniSTS:156601

D11S3316 (e-PCR)
- UniSTS:152558

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 activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell motility	IDA Inferred from Direct Assay 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

General protein information

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Preferred Names: coiled-coil domain-containing protein 125

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_001297696.2 → NP_001284625.1 coiled-coil domain-containing protein 125 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR exon and an alternate splice site in the 5' coding region, and lacks an internal exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) lacks an internal aa in the N-terminal region and has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC145132, AI141520, AK299871, BC108715

UniProtKB/TrEMBL

F8W912

Related

ENSP00000372865.2, ENST00000383374.6

Conserved Domains (1) summary

TIGR02168
Location:110 → 256

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
NM_001297697.2 → NP_001284626.1 coiled-coil domain-containing protein 125 isoform 3

See identical proteins and their annotated locations for NP_001284626.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate 5' UTR exon, lacks an internal segment and has an alternate splice site in the 5' region, compared to variant 1. The translation initiation is at a downstream AUG start codon, and the resulting isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC145132, AI141520, AK299871, BC108715, BC113749

Consensus CDS

CCDS75255.1

UniProtKB/TrEMBL

B4DSR1

Related

ENSP00000426795.1, ENST00000511257.1

Conserved Domains (1) summary

pfam09730
Location:2 → 139

BicD; Microtubule-associated protein Bicaudal-D
NM_176816.5 → NP_789786.2 coiled-coil domain-containing protein 125 isoform 1

See identical proteins and their annotated locations for NP_789786.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB024691, AC145132, AI141520, BC108715

Consensus CDS

CCDS4000.1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20

Related

ENSP00000379754.2, ENST00000396496.7

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

69273039..69332801 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543258.3 → XP_011541560.1 coiled-coil domain-containing protein 125 isoform X7

See identical proteins and their annotated locations for XP_011541560.1

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_047416908.1 → XP_047272864.1 coiled-coil domain-containing protein 125 isoform X17
XM_047416901.1 → XP_047272857.1 coiled-coil domain-containing protein 125 isoform X11
XM_047416899.1 → XP_047272855.1 coiled-coil domain-containing protein 125 isoform X9
XM_047416900.1 → XP_047272856.1 coiled-coil domain-containing protein 125 isoform X11
XM_047416898.1 → XP_047272854.1 coiled-coil domain-containing protein 125 isoform X9
XM_017009207.2 → XP_016864696.1 coiled-coil domain-containing protein 125 isoform X10
XM_011543259.3 → XP_011541561.1 coiled-coil domain-containing protein 125 isoform X8

See identical proteins and their annotated locations for XP_011541561.1

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_047416907.1 → XP_047272863.1 coiled-coil domain-containing protein 125 isoform X15
XM_047416904.1 → XP_047272860.1 coiled-coil domain-containing protein 125 isoform X13
XM_047416906.1 → XP_047272862.1 coiled-coil domain-containing protein 125 isoform X14
XM_047416902.1 → XP_047272858.1 coiled-coil domain-containing protein 125 isoform X12
XM_047416897.1 → XP_047272853.1 coiled-coil domain-containing protein 125 isoform X6
XM_047416895.1 → XP_047272851.1 coiled-coil domain-containing protein 125 isoform X4
XM_017009206.3 → XP_016864695.1 coiled-coil domain-containing protein 125 isoform X2

Conserved Domains (1) summary

cl25732
Location:110 → 256

SMC_N; RecF/RecN/SMC N terminal domain
XM_047416896.1 → XP_047272852.1 coiled-coil domain-containing protein 125 isoform X5
XM_047416893.1 → XP_047272849.1 coiled-coil domain-containing protein 125 isoform X3
XM_005248458.6 → XP_005248515.1 coiled-coil domain-containing protein 125 isoform X1

See identical proteins and their annotated locations for XP_005248515.1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20

Related

ENSP00000379756.1, ENST00000396499.5

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_024454396.2 → XP_024310164.1 coiled-coil domain-containing protein 125 isoform X2

Conserved Domains (1) summary

cl25732
Location:110 → 256

SMC_N; RecF/RecN/SMC N terminal domain
XM_011543256.4 → XP_011541558.1 coiled-coil domain-containing protein 125 isoform X1

See identical proteins and their annotated locations for XP_011541558.1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_006714570.5 → XP_006714633.1 coiled-coil domain-containing protein 125 isoform X13

See identical proteins and their annotated locations for XP_006714633.1

UniProtKB/TrEMBL

B4DSR1

Conserved Domains (1) summary

TIGR02168
Location:34 → 180

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_047416905.1 → XP_047272861.1 coiled-coil domain-containing protein 125 isoform X14
XM_047416903.1 → XP_047272859.1 coiled-coil domain-containing protein 125 isoform X12
XM_047416894.1 → XP_047272850.1 coiled-coil domain-containing protein 125 isoform X4
XM_005248459.6 → XP_005248516.1 coiled-coil domain-containing protein 125 isoform X2

See identical proteins and their annotated locations for XP_005248516.1

Conserved Domains (1) summary

cl25732
Location:110 → 256

SMC_N; RecF/RecN/SMC N terminal domain
XM_011543255.4 → XP_011541557.1 coiled-coil domain-containing protein 125 isoform X1

See identical proteins and their annotated locations for XP_011541557.1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_005248461.5 → XP_005248518.1 coiled-coil domain-containing protein 125 isoform X16

See identical proteins and their annotated locations for XP_005248518.1

UniProtKB/TrEMBL

B4DSR1
XM_005248463.5 → XP_005248520.1 coiled-coil domain-containing protein 125 isoform X18

See identical proteins and their annotated locations for XP_005248520.1

UniProtKB/TrEMBL

B4DSR1
XM_017009211.3 → XP_016864700.1 coiled-coil domain-containing protein 125 isoform X20
XM_011543260.3 → XP_011541562.1 coiled-coil domain-containing protein 125 isoform X19

See identical proteins and their annotated locations for XP_011541562.1

UniProtKB/TrEMBL

F8W912

Conserved Domains (1) summary

TIGR02168
Location:111 → 257

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

63350..115915 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329516.1 → XP_054185491.1 coiled-coil domain-containing protein 125 isoform X15
XM_054329512.1 → XP_054185487.1 coiled-coil domain-containing protein 125 isoform X13
XM_054329515.1 → XP_054185490.1 coiled-coil domain-containing protein 125 isoform X14
XM_054329511.1 → XP_054185486.1 coiled-coil domain-containing protein 125 isoform X12
XM_054329503.1 → XP_054185478.1 coiled-coil domain-containing protein 125 isoform X6
XM_054329501.1 → XP_054185476.1 coiled-coil domain-containing protein 125 isoform X4
XM_054329498.1 → XP_054185473.1 coiled-coil domain-containing protein 125 isoform X2
XM_054329500.1 → XP_054185475.1 coiled-coil domain-containing protein 125 isoform X3
XM_054329494.1 → XP_054185469.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054329513.1 → XP_054185488.1 coiled-coil domain-containing protein 125 isoform X13
XM_054329514.1 → XP_054185489.1 coiled-coil domain-containing protein 125 isoform X14
XM_054329510.1 → XP_054185485.1 coiled-coil domain-containing protein 125 isoform X12
XM_054329497.1 → XP_054185472.1 coiled-coil domain-containing protein 125 isoform X2
XM_054329502.1 → XP_054185477.1 coiled-coil domain-containing protein 125 isoform X5
XM_054329499.1 → XP_054185474.1 coiled-coil domain-containing protein 125 isoform X2
XM_054329495.1 → XP_054185470.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054329496.1 → XP_054185471.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054329517.1 → XP_054185492.1 coiled-coil domain-containing protein 125 isoform X16
XM_054329519.1 → XP_054185494.1 coiled-coil domain-containing protein 125 isoform X18
XM_054329521.1 → XP_054185496.1 coiled-coil domain-containing protein 125 isoform X20
XM_054329518.1 → XP_054185493.1 coiled-coil domain-containing protein 125 isoform X17
XM_054329509.1 → XP_054185484.1 coiled-coil domain-containing protein 125 isoform X11
XM_054329505.1 → XP_054185480.1 coiled-coil domain-containing protein 125 isoform X9
XM_054329508.1 → XP_054185483.1 coiled-coil domain-containing protein 125 isoform X11
XM_054329506.1 → XP_054185481.1 coiled-coil domain-containing protein 125 isoform X9
XM_054329507.1 → XP_054185482.1 coiled-coil domain-containing protein 125 isoform X10
XM_054329504.1 → XP_054185479.1 coiled-coil domain-containing protein 125 isoform X8
XM_054329520.1 → XP_054185495.1 coiled-coil domain-containing protein 125 isoform X19

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

70105918..70158503 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352001.1 → XP_054207976.1 coiled-coil domain-containing protein 125 isoform X15
XM_054351997.1 → XP_054207972.1 coiled-coil domain-containing protein 125 isoform X13
XM_054351999.1 → XP_054207974.1 coiled-coil domain-containing protein 125 isoform X14
XM_054351996.1 → XP_054207971.1 coiled-coil domain-containing protein 125 isoform X12
XM_054351988.1 → XP_054207963.1 coiled-coil domain-containing protein 125 isoform X6
XM_054351985.1 → XP_054207960.1 coiled-coil domain-containing protein 125 isoform X4
XM_054351982.1 → XP_054207957.1 coiled-coil domain-containing protein 125 isoform X2
XM_054351987.1 → XP_054207962.1 coiled-coil domain-containing protein 125 isoform X5
XM_054351984.1 → XP_054207959.1 coiled-coil domain-containing protein 125 isoform X3
XM_054351978.1 → XP_054207953.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054351998.1 → XP_054207973.1 coiled-coil domain-containing protein 125 isoform X13
XM_054352000.1 → XP_054207975.1 coiled-coil domain-containing protein 125 isoform X14
XM_054351995.1 → XP_054207970.1 coiled-coil domain-containing protein 125 isoform X12
XM_054351986.1 → XP_054207961.1 coiled-coil domain-containing protein 125 isoform X4
XM_054351981.1 → XP_054207956.1 coiled-coil domain-containing protein 125 isoform X2
XM_054351983.1 → XP_054207958.1 coiled-coil domain-containing protein 125 isoform X2
XM_054351979.1 → XP_054207954.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054351980.1 → XP_054207955.1 coiled-coil domain-containing protein 125 isoform X1

UniProtKB/Swiss-Prot

Q86Z19, Q86Z20
XM_054352002.1 → XP_054207977.1 coiled-coil domain-containing protein 125 isoform X16
XM_054352004.1 → XP_054207979.1 coiled-coil domain-containing protein 125 isoform X18
XM_054352006.1 → XP_054207981.1 coiled-coil domain-containing protein 125 isoform X20
XM_054352003.1 → XP_054207978.1 coiled-coil domain-containing protein 125 isoform X17
XM_054351994.1 → XP_054207969.1 coiled-coil domain-containing protein 125 isoform X11
XM_054351990.1 → XP_054207965.1 coiled-coil domain-containing protein 125 isoform X9
XM_054351993.1 → XP_054207968.1 coiled-coil domain-containing protein 125 isoform X11
XM_054351991.1 → XP_054207966.1 coiled-coil domain-containing protein 125 isoform X9
XM_054351992.1 → XP_054207967.1 coiled-coil domain-containing protein 125 isoform X10
XM_054351989.1 → XP_054207964.1 coiled-coil domain-containing protein 125 isoform X8
XM_054352005.1 → XP_054207980.1 coiled-coil domain-containing protein 125 isoform X19