Q5TAP6 (UT14C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
U3 small nucleolar RNA-associated protein 14 homolog C

Gene names

Name:	UTP14C
Synonyms:	KIAA0266

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	766 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis By similarity. Ref.4
Subcellular location	Nucleus › nucleolus By similarity.
Tissue specificity	Expressed in testis. Ref.4
Miscellaneous	Encoded by an autosomal retrotransposed copy of the X-linked gene UTP14A. Evolution of autosomal retrogenes from X-linked progenitors compensates for X-chromosome silencing during male meiosis.
Sequence similarities	Belongs to the UTP14 family.
Sequence caution	The sequence BAA13396.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Differentiation Meiosis Ribosome biogenesis Spermatogenesis
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW meiosis Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW rRNA processing Inferred from electronic annotation. Source: InterPro spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell small-subunit processome Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 766	766	U3 small nucleolar RNA-associated protein 14 homolog C		PRO_0000065736
Regions
	Coiled coil	216 – 245	30	Potential
	Coiled coil	316 – 346	31	Potential
	Coiled coil	452 – 470	19	Potential
Natural variations
	Natural variant	85	1	G → V. Ref.3 Corresponds to variant rs3742289 [ dbSNP | Ensembl ].		VAR_022812
	Natural variant	101	1	T → A. Corresponds to variant rs3742290 [ dbSNP | Ensembl ].		VAR_022813
	Natural variant	319	1	R → H. Corresponds to variant rs17402034 [ dbSNP | Ensembl ].		VAR_051482

Sequences

	Sequence		Length	Mass (Da)
	Q5TAP6 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: 4C90F0754A042986	FASTA	766	87,188
	10 20 30 40 50 60 MNVNQVAENL ALSHQEELVD LPKNYPLSEN EDEGDSDGER KHQKLLEAII SLDGKNRRKL 70 80 90 100 110 120 AERSEASLKV SEFSVSSEGS GEKLGLADLL EPVKTSSSLA TVKKQLNRVK SKKVVELPLN 130 140 150 160 170 180 KEKIEQIHRE VAFSKTSQVL SKWDPIILKN QQAEQLVFPL GKEQPAIAPI EHALSGWKAR 190 200 210 220 230 240 TPLEQEIFNL LHKNKQPVTD PLLTPMEKAS LQAMSLEEAK MHRAELQRAR ALQSYYEAKA 250 260 270 280 290 300 RKEKKIKSKK YHKVVKKGKA KKALKEFEQL QKVNPTVALE EMEKIENARM MERMSLKHQN 310 320 330 340 350 360 SGKWAKSKAI MAKYDLEARQ AMQEQLAKNK ELTQKLQVAS ESEEEEGGTE VEELLVPHVA 370 380 390 400 410 420 NEVQMNVDGP NPWMFRSCTS DTKEAATQED PEQVPELAAH EVSASEAEER PVAEEEILLR 430 440 450 460 470 480 EFEERQSLRK RSELNQDAEP ASSQETKDSS SQEVLSELRA LSQKLKEKHQ SRKQKASSEG 490 500 510 520 530 540 TVPQVQREEP APEEAEPLLL QRSERVQTLE ELEELGKEDC FQNKELPRPV LEGQQSERTP 550 560 570 580 590 600 NNRPDAPKEK KEKEQLINLQ NFLTTQSPSV RSLAVPTIIE ELEDEEERDQ RQMIKEAFAG 610 620 630 640 650 660 DDVIRDFLKE KREAVEASKP KDVDLTLPGW GEWGGVGLKP SAKKRRQFLI KAPEGPPRKD 670 680 690 700 710 720 KNLPNVIISE KRNIHAAAHQ VQVLPYPFTH HRQFERTIQT PIGSTWNTQR AFQKLTTPKV 730 740 750 760 VTKPGHIIKP IKAEDVGYQS SSRSDLPVIQ RNPKRITTRH NKEEKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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], VARIANT VAL-85. Tissue: Lymph.
[4]	"The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b." Rohozinski J., Bishop C.E. Proc. Natl. Acad. Sci. U.S.A. 101:11695-11700(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D87455 mRNA. Translation: BAA13396.2. Different initiation. AL139082 Genomic DNA. Translation: CAI12891.1. BC089407 mRNA. Translation: AAH89407.1.
IPI	IPI00550793.
RefSeq	NP_067677.4. NM_021645.5.
UniGene	Hs.512963.
3D structure databases
ProteinModelPortal	Q5TAP6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000367361.
PTM databases
PhosphoSite	Q5TAP6.
Polymorphism databases
DMDM	68566167.
Proteomic databases
PRIDE	Q5TAP6.
Protocols and materials databases
DNASU	9724.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000521776; ENSP00000428619; ENSG00000253797.
GeneID	9724.
KEGG	hsa:9724.
UCSC	uc001vgb.3. human.
Organism-specific databases
CTD	9724.
GeneCards	GC13P052599.
HGNC	HGNC:20321. UTP14C.
MIM	608969. gene.
neXtProt	NX_Q5TAP6.
PharmGKB	PA134944828.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000231396.
HOVERGEN	HBG056550.
InParanoid	Q5TAP6.
KO	K14567.
OMA	YTSIDEE.
OrthoDB	EOG4XKV6P.
Gene expression databases
Bgee	Q5TAP6.
Genevestigator	Q5TAP6.
GermOnline	ENSG00000136112. Homo sapiens.
Family and domain databases
InterPro	IPR006709. SSU_processome_Utp14. [Graphical view]
PANTHER	PTHR14150. PTHR14150. 1 hit.
Pfam	PF04615. Utp14. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9724.
NextBio	36581.
SOURCE	Search...

Entry information

Entry name

UT14C_HUMAN

Accession

Primary (citable) accession number: Q5TAP6
Secondary accession number(s): Q5FWG3, Q92555

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	December 21, 2004
Last modified:	April 3, 2013
This is version 73 of the entry and version 1 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.