Q8N1B3 (FA58A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cyclin-related protein FAM58A

Alternative name(s):
Cyclin-M

Gene names

Name:

FAM58A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	248 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have a role in cell proliferation. Ref.4
Subunit structure	Interacts with SALL1. Ref.4
Involvement in disease	Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
Sequence caution	The sequence AAH01909.4 differs from that shown. Reason: Erroneous initiation. The sequence AAH07232.4 differs from that shown. Reason: Erroneous initiation. The sequence AAH32121.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH71851.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Cyclin
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of cyclin-dependent protein serine/threonine kinase activity Inferred from electronic annotation. Source: InterPro regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N1B3-1)

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.

Isoform 2 (identifier: Q8N1B3-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 248	248	Cyclin-related protein FAM58A		PRO_0000297567
Regions
	Compositional bias	6 – 10	5	Poly-Gly
Natural variations
	Alternative sequence	219 – 238	20	Missing in isoform 2.		VSP_034527
	Natural variant	183	1	C → S. Ref.1 Corresponds to variant rs17850173 [ dbSNP | Ensembl ].		VAR_034642

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 21, 2007. Version 2. Checksum: E7C11BC5D23BFB82	FASTA	248	28,369
	10 20 30 40 50 60 MEAPEGGGGG PAARGPEGQP APEARVHFRV ARFIMEAGVK LGMRSIPIAT ACTIYHKFFC 70 80 90 100 110 120 ETNLDAYDPY LIAMSSIYLA GKVEEQHLRT RDIINVSNRY FNPSGEPLEL DSRFWELRDS 130 140 150 160 170 180 IVQCELLMLR VLRFQVSFQH PHKYLLHYLV SLQNWLNRHS WQRTPVAVTA WALLRDSYHG 190 200 210 220 230 240 ALCLRFQAQH IAVAVLYLAL QVYGVEVPAE VEAEKPWWQV FNDDLTKPII DNIVSDLIQI YTMDTEIP
	Isoform 2 [UniParc]. Checksum: 1849A4531BC802BC	FASTA	228	26,114
	10 20 30 40 50 60 MEAPEGGGGG PAARGPEGQP APEARVHFRV ARFIMEAGVK LGMRSIPIAT ACTIYHKFFC 70 80 90 100 110 120 ETNLDAYDPY LIAMSSIYLA GKVEEQHLRT RDIINVSNRY FNPSGEPLEL DSRFWELRDS 130 140 150 160 170 180 IVQCELLMLR VLRFQVSFQH PHKYLLHYLV SLQNWLNRHS WQRTPVAVTA WALLRDSYHG 190 200 210 220 ALCLRFQAQH IAVAVLYLAL QVYGVEVPAE VEAEKPWWQI YTMDTEIP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-183. Tissue: B-cell, Blood, Kidney and Lung.
[2]	Lin L., Nong W., Zhou G., Ke R., Shen C., Zhong G., Liang M., Tang Z., Huang B., Li H., Yang S. Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-228 (ISOFORM 2).
[3]	"Cyclin M." Johne C., Tschop K., Engeland K. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 52-130 (ISOFORM 1).
[4]	"Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations." Unger S., Boehm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Boehm J., Barrionuevo F., Craig A., Borowski K., Keppler-Noreuil K., Schmitt-Mechelke T., Steiner B., Bartholdi D., Lemke J., Mortier G., Sandford R. , Zabel B., Superti-Furga A., Kohlhase J. Nat. Genet. 40:287-289(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH SALL1, INVOLVEMENT IN STAR.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00643557. IPI00647327.
RefSeq	NP_001124469.1. NM_001130997.1. NP_689487.2. NM_152274.3.
UniGene	Hs.496943.
3D structure databases
ProteinModelPortal	Q8N1B3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N1B3. 1 interaction.
STRING	9606.ENSP00000377422.
PTM databases
PhosphoSite	Q8N1B3.
Polymorphism databases
DMDM	156630447.
Proteomic databases
PaxDb	Q8N1B3.
PRIDE	Q8N1B3.
Protocols and materials databases
DNASU	92002.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	92002.
KEGG	hsa:92002.
UCSC	uc011myr.2. human. uc011mys.2. human.
Organism-specific databases
CTD	92002.
GeneCards	GC0XM152854.
H-InvDB	HIX0019181. HIX0171824.
HGNC	HGNC:28434. FAM58A.
HPA	HPA050137.
MIM	300707. phenotype. 300708. gene.
neXtProt	NX_Q8N1B3.
Orphanet	140952. Syndactyly - telecanthus - anogenital and renal malformations.
PharmGKB	PA142671863.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5333.
HOGENOM	HOG000044948.
HOVERGEN	HBG050836.
Gene expression databases
ArrayExpress	Q8N1B3.
Bgee	Q8N1B3.
CleanEx	HS_FAM58A.
Genevestigator	Q8N1B3.
Family and domain databases
Gene3D	1.10.472.10. 1 hit.
InterPro	IPR013763. Cyclin-like. IPR015429. Cyclin_C/H/T/L. IPR006671. Cyclin_N. [Graphical view]
PANTHER	PTHR10026. PTHR10026. 1 hit.
Pfam	PF00134. Cyclin_N. 1 hit. [Graphical view]
SMART	SM00385. CYCLIN. 2 hits. [Graphical view]
SUPFAM	SSF47954. Cyclin_like. 2 hits.
PROSITE	PS00292. CYCLINS. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	92002.
NextBio	77554.
SOURCE	Search...

Entry information

Entry name

FA58A_HUMAN

Accession

Primary (citable) accession number: Q8N1B3
Secondary accession number(s): Q2I380 , Q330J9, Q96IU5, Q9BUU1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	August 21, 2007
Last modified:	May 1, 2013
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.