Reviewed, UniProtKB/Swiss-Prot O60308 (K0562_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized protein KIAA0562

Gene names

Name:

KIAA0562

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	925 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities	Contains 2 HEAT repeats.
Sequence caution	The sequence AAH01640.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat
PTM	Phosphoprotein
Gene Ontology (GO)
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Notes: Additional isoforms may exist.

Isoform 1 (identifier: O60308-1)

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: O60308-2)

The sequence of this isoform differs from the canonical sequence as follows:
     189-244: RKSDYISPLD...KLKQAIADLQ → SSVRTGGEST...EGTPFQRCLV
     245-925: Missing.

Notes: No experimental confirmation available.

Isoform 3 (identifier: O60308-3)

The sequence of this isoform differs from the canonical sequence as follows:
     554-554: E → V
     555-925: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 925	925	Uncharacterized protein KIAA0562		PRO_0000050763
Regions
	Repeat	529 – 567	39	HEAT 1
	Repeat	604 – 640	37	HEAT 2
	Coiled coil	209 – 289	81	Potential
	Coiled coil	677 – 725	49	Potential
Amino acid modifications
	Modified residue	323	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	189 – 244	56	RKSDY…IADLQ → SSVRTGGESTFGELKGPAVP SSVTLSVLGTSLGQWFPCHL PAVDDNEGTPFQRCLV in isoform 2.		VSP_014364
	Alternative sequence	245 – 925	681	Missing in isoform 2.		VSP_014365
	Alternative sequence	554	1	E → V in isoform 3.		VSP_014366
	Alternative sequence	555 – 925	371	Missing in isoform 3.		VSP_014367
	Natural variant	414	1	L → I: dbSNP rs2275824.		VAR_034036
	Natural variant	686	1	A → V: dbSNP rs2275831.		VAR_020042
Experimental info
	Sequence conflict	51	1	V → L in AAH01640. Ref.4
	Sequence conflict	266	1	Y → F in AAH47450. Ref.4
	Sequence conflict	383	1	P → S in AAH47450. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 6B2BBD5068136887	FASTA	925	104,448
	10 20 30 40 50 60 MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM VERCRIRKLQ 70 80 90 100 110 120 LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL CDNEKTGCKA RELKSVYVDA 130 140 150 160 170 180 VGQFLKLIFH QNHVNKYNIY NQVALVAINI IGDPADFSDE SNTASREKLI DHYLGHNSED 190 200 210 220 230 240 PALEGTYARK SDYISPLDDL AFDMYQDPEV AQIIRKLDER KREAVQKERY DYAKKLKQAI 250 260 270 280 290 300 ADLQKVGERL GRYEVEKRCA VEKEDYDLAK EKKQQMEQYR AEVYEQLELH SLLDAELMRR 310 320 330 340 350 360 PFDLPLQPLA RSGSPCHQKP MPSLPQLEER GTENQFAEPF LQEKPSSYSL TISPQHSAVD 370 380 390 400 410 420 PLLPATDPHP KINAESLPYD ERPLPAIRKH YGEAVVEPEM SNADISDARR GGMLGEPEPL 430 440 450 460 470 480 TEKALREASS AIDVLGETLV AEAYCKTWSY REDALLALSK KLMEMPVGTP KEDLKNTLRA 490 500 510 520 530 540 SVFLVRRAIK DIVTSVFQAS LKLLKMIITQ YIPKHKLSKL ETAHCVERTI PVLLTRTGDS 550 560 570 580 590 600 SARLRVTAAN FIQEMALFKE VKSLQIIPSY LVQPLKANSS VHLAMSQMGL LARLLKDLGT 610 620 630 640 650 660 GSSGFTIDNV MKFSVSALEH RVYEVRETAV RIILDMYRQH QASILEYLPP DDSNTRRNIL 670 680 690 700 710 720 YKTIFEGFAK IDGRATDAEM RARRKAATEE AEKQKKEEIK ALQGQLAALK EIQAEVQEKE 730 740 750 760 770 780 SDAVKPKNQD IQGGKAAPAE ALGIPDEHYL DNLCIFCGER SESFTEEGLD LHYWKHCLML 790 800 810 820 830 840 TRCDHCKQVV EISSLTEHLL TECDKKDGFG KCYRCSEAVF KEELPRHIKH KDCNPAKPEK 850 860 870 880 890 900 LANRCPLCHE NFSPGEEAWK AHLMGPAGCT MNLRKTHILQ KAPALQPGKS SAVAASGPLG 910 920 SKAGSKIPTP KGGLSKSSSR TYAKR
	Isoform 2 [UniParc]. Checksum: 91F314638FBB292C		244	27,350
	10 20 30 40 50 60 MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM VERCRIRKLQ 70 80 90 100 110 120 LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL CDNEKTGCKA RELKSVYVDA 130 140 150 160 170 180 VGQFLKLIFH QNHVNKYNIY NQVALVAINI IGDPADFSDE SNTASREKLI DHYLGHNSED 190 200 210 220 230 240 PALEGTYASS VRTGGESTFG ELKGPAVPSS VTLSVLGTSL GQWFPCHLPA VDDNEGTPFQ RCLV
	Isoform 3 [UniParc]. Checksum: 45407773F3D60E53		554	63,187
	10 20 30 40 50 60 MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM VERCRIRKLQ 70 80 90 100 110 120 LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL CDNEKTGCKA RELKSVYVDA 130 140 150 160 170 180 VGQFLKLIFH QNHVNKYNIY NQVALVAINI IGDPADFSDE SNTASREKLI DHYLGHNSED 190 200 210 220 230 240 PALEGTYARK SDYISPLDDL AFDMYQDPEV AQIIRKLDER KREAVQKERY DYAKKLKQAI 250 260 270 280 290 300 ADLQKVGERL GRYEVEKRCA VEKEDYDLAK EKKQQMEQYR AEVYEQLELH SLLDAELMRR 310 320 330 340 350 360 PFDLPLQPLA RSGSPCHQKP MPSLPQLEER GTENQFAEPF LQEKPSSYSL TISPQHSAVD 370 380 390 400 410 420 PLLPATDPHP KINAESLPYD ERPLPAIRKH YGEAVVEPEM SNADISDARR GGMLGEPEPL 430 440 450 460 470 480 TEKALREASS AIDVLGETLV AEAYCKTWSY REDALLALSK KLMEMPVGTP KEDLKNTLRA 490 500 510 520 530 540 SVFLVRRAIK DIVTSVFQAS LKLLKMIITQ YIPKHKLSKL ETAHCVERTI PVLLTRTGDS 550 SARLRVTAAN FIQV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO N-TERMINUS.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Kidney, Skin and Testis.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB011134 mRNA. Translation: BAA25488.2. Different initiation. AL691523 Genomic DNA. Translation: CAI17368.1. AL691523, AL365330 Genomic DNA. Translation: CAI17369.1. AL365330, AL691523 Genomic DNA. Translation: CAI42527.1. AL365330 Genomic DNA. Translation: CAI42529.1. BC001640 mRNA. Translation: AAH01640.1. Sequence problems. BC047450 mRNA. Translation: AAH47450.1. BC050721 mRNA. Translation: AAH50721.1.
PIR	T00334.
RefSeq	NP_055519.1.
UniGene	Hs.133089 Hs.509017
3D structure databases
HSSP	HSSP built from PDB template 1DU3 based on UniProtKB O14763.
ModBase	Search...
PTM databases
PhosphoSite	O60308.
Genome annotation databases
Ensembl	ENSG00000116198. Homo sapiens. [Contig view]
GeneID	9731.
KEGG	hsa:9731.
Organism-specific databases
HGNC	HGNC:24866. KIAA0562.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	O60308.
Gene expression databases
ArrayExpress	O60308.
CleanEx	HS_KIAA0562.
GermOnline	ENSG00000116198. Homo sapiens.
Family and domain databases
InterPro	IPR000357. HEAT. [Graphical view]
Pfam	PF02985. HEAT. 2 hits. [Graphical view]
PROSITE	PS50077. HEAT_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	36608.

Entry information

Entry name

K0562_HUMAN

Accession

Primary (citable) accession number: O60308
Secondary accession number(s): Q5JSQ3 , Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	August 1, 1998
Last modified:	November 25, 2008
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)