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Protein

Cyclin-related protein FAM58A

Gene

FAM58A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Activating cyclin for the cyclin-associated kinase CDK10.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Cyclin

Enzyme and pathway databases

SignaLinkiQ8N1B3.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclin-related protein FAM58A
Alternative name(s):
CDK10-activating cyclin
Cyclin-M
Gene namesi
Name:FAM58A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:28434. FAM58A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus.
See also OMIM:300707

Organism-specific databases

MalaCardsiFAM58A.
MIMi300707. phenotype.
Orphaneti140952. Syndactyly - telecanthus - anogenital and renal malformations.
PharmGKBiPA142671863.

Polymorphism and mutation databases

DMDMi156630447.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 248248Cyclin-related protein FAM58APRO_0000297567Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8N1B3.
MaxQBiQ8N1B3.
PaxDbiQ8N1B3.
PeptideAtlasiQ8N1B3.
PRIDEiQ8N1B3.

PTM databases

iPTMnetiQ8N1B3.
PhosphoSiteiQ8N1B3.

Expressioni

Gene expression databases

BgeeiENSG00000262919.
CleanExiHS_FAM58A.
ExpressionAtlasiQ8N1B3. baseline and differential.
GenevisibleiQ8N1B3. HS.

Organism-specific databases

HPAiHPA050137.
HPA059843.

Interactioni

Subunit structurei

Associates with CDK10 to promote its kinase activity. Interacts with SALL1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CDK10Q15131-15EBI-3925043,EBI-11507283

Protein-protein interaction databases

BioGridi124901. 16 interactions.
IntActiQ8N1B3. 11 interactions.
MINTiMINT-4713832.
STRINGi9606.ENSP00000384396.

Structurei

3D structure databases

ProteinModelPortaliQ8N1B3.
SMRiQ8N1B3. Positions 20-242.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi6 – 105Poly-Gly

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0834. Eukaryota.
COG5333. LUCA.
GeneTreeiENSGT00760000119191.
HOGENOMiHOG000044948.
HOVERGENiHBG050836.
InParanoidiQ8N1B3.
OMAiQRTPISV.
OrthoDBiEOG091G0KKP.
PhylomeDBiQ8N1B3.

Family and domain databases

Gene3Di1.10.472.10. 1 hit.
InterProiIPR013763. Cyclin-like.
IPR028759. Cyclin-rel_FAM58.
IPR006671. Cyclin_N.
[Graphical view]
PANTHERiPTHR10026:SF70. PTHR10026:SF70. 1 hit.
PfamiPF00134. Cyclin_N. 1 hit.
[Graphical view]
SMARTiSM00385. CYCLIN. 2 hits.
[Graphical view]
SUPFAMiSSF47954. SSF47954. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N1B3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAPEGGGGG PAARGPEGQP APEARVHFRV ARFIMEAGVK LGMRSIPIAT
60 70 80 90 100
ACTIYHKFFC ETNLDAYDPY LIAMSSIYLA GKVEEQHLRT RDIINVSNRY
110 120 130 140 150
FNPSGEPLEL DSRFWELRDS IVQCELLMLR VLRFQVSFQH PHKYLLHYLV
160 170 180 190 200
SLQNWLNRHS WQRTPVAVTA WALLRDSYHG ALCLRFQAQH IAVAVLYLAL
210 220 230 240
QVYGVEVPAE VEAEKPWWQV FNDDLTKPII DNIVSDLIQI YTMDTEIP
Length:248
Mass (Da):28,369
Last modified:August 21, 2007 - v2
Checksum:iE7C11BC5D23BFB82
GO
Isoform 2 (identifier: Q8N1B3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-238: Missing.

Note: No experimental confirmation available.
Show »
Length:228
Mass (Da):26,114
Checksum:i1849A4531BC802BC
GO

Sequence cautioni

The sequence AAH01909 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH07232 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH32121 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH71851 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831C → S.1 Publication
Corresponds to variant rs17850173 [ dbSNP | Ensembl ].
VAR_034642

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei219 – 23820Missing in isoform 2. 1 PublicationVSP_034527Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC001909 mRNA. Translation: AAH01909.4. Different initiation.
BC007232 mRNA. Translation: AAH07232.4. Different initiation.
BC032121 mRNA. Translation: AAH32121.1. Different initiation.
BC071851 mRNA. Translation: AAH71851.1. Different initiation.
DQ323993 mRNA. Translation: ABC88595.1.
AY445048 mRNA. Translation: AAS20614.1.
CCDSiCCDS76054.1. [Q8N1B3-2]
RefSeqiNP_001124469.1. NM_001130997.2. [Q8N1B3-2]
NP_689487.2. NM_152274.4. [Q8N1B3-1]
UniGeneiHs.496943.

Genome annotation databases

EnsembliENST00000440428; ENSP00000402949; ENSG00000262919. [Q8N1B3-2]
ENST00000576892; ENSP00000461135; ENSG00000262919. [Q8N1B3-1]
GeneIDi92002.
KEGGihsa:92002.
UCSCiuc033fat.2. human. [Q8N1B3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC001909 mRNA. Translation: AAH01909.4. Different initiation.
BC007232 mRNA. Translation: AAH07232.4. Different initiation.
BC032121 mRNA. Translation: AAH32121.1. Different initiation.
BC071851 mRNA. Translation: AAH71851.1. Different initiation.
DQ323993 mRNA. Translation: ABC88595.1.
AY445048 mRNA. Translation: AAS20614.1.
CCDSiCCDS76054.1. [Q8N1B3-2]
RefSeqiNP_001124469.1. NM_001130997.2. [Q8N1B3-2]
NP_689487.2. NM_152274.4. [Q8N1B3-1]
UniGeneiHs.496943.

3D structure databases

ProteinModelPortaliQ8N1B3.
SMRiQ8N1B3. Positions 20-242.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124901. 16 interactions.
IntActiQ8N1B3. 11 interactions.
MINTiMINT-4713832.
STRINGi9606.ENSP00000384396.

PTM databases

iPTMnetiQ8N1B3.
PhosphoSiteiQ8N1B3.

Polymorphism and mutation databases

DMDMi156630447.

Proteomic databases

EPDiQ8N1B3.
MaxQBiQ8N1B3.
PaxDbiQ8N1B3.
PeptideAtlasiQ8N1B3.
PRIDEiQ8N1B3.

Protocols and materials databases

DNASUi92002.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000440428; ENSP00000402949; ENSG00000262919. [Q8N1B3-2]
ENST00000576892; ENSP00000461135; ENSG00000262919. [Q8N1B3-1]
GeneIDi92002.
KEGGihsa:92002.
UCSCiuc033fat.2. human. [Q8N1B3-1]

Organism-specific databases

CTDi92002.
GeneCardsiFAM58A.
H-InvDBHIX0019181.
HIX0171824.
HGNCiHGNC:28434. FAM58A.
HPAiHPA050137.
HPA059843.
MalaCardsiFAM58A.
MIMi300707. phenotype.
300708. gene.
neXtProtiNX_Q8N1B3.
Orphaneti140952. Syndactyly - telecanthus - anogenital and renal malformations.
PharmGKBiPA142671863.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0834. Eukaryota.
COG5333. LUCA.
GeneTreeiENSGT00760000119191.
HOGENOMiHOG000044948.
HOVERGENiHBG050836.
InParanoidiQ8N1B3.
OMAiQRTPISV.
OrthoDBiEOG091G0KKP.
PhylomeDBiQ8N1B3.

Enzyme and pathway databases

SignaLinkiQ8N1B3.

Miscellaneous databases

GenomeRNAii92002.
PROiQ8N1B3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000262919.
CleanExiHS_FAM58A.
ExpressionAtlasiQ8N1B3. baseline and differential.
GenevisibleiQ8N1B3. HS.

Family and domain databases

Gene3Di1.10.472.10. 1 hit.
InterProiIPR013763. Cyclin-like.
IPR028759. Cyclin-rel_FAM58.
IPR006671. Cyclin_N.
[Graphical view]
PANTHERiPTHR10026:SF70. PTHR10026:SF70. 1 hit.
PfamiPF00134. Cyclin_N. 1 hit.
[Graphical view]
SMARTiSM00385. CYCLIN. 2 hits.
[Graphical view]
SUPFAMiSSF47954. SSF47954. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiFA58A_HUMAN
AccessioniPrimary (citable) accession number: Q8N1B3
Secondary accession number(s): Q2I380
, Q330J9, Q96IU5, Q9BUU1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: September 7, 2016
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Silencing with siRNAs phenocopies CDK10 silencing in increasing c-Raf and in conferring tamoxifen resistance to breast cancer cells.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.