O15033 (K0317_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein KIAA0317

Gene names

Name:

KIAA0317

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

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence similarities	Contains 1 filamin repeat. Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Sequence caution	The sequence BAA20775.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein ubiquitination involved in ubiquitin-dependent protein catabolic process Inferred from Biological aspect of Ancestor. Source: RefGenome
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	ubiquitin-protein ligase activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: O15033-1)

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: O15033-2)

The sequence of this isoform differs from the canonical sequence as follows:
     790-823: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 823	823	Protein KIAA0317		PRO_0000120349
Regions
	Transmembrane	2 – 22	21	Helical; Potential
	Repeat	52 – 158	107	Filamin
	Domain	483 – 823	341	HECT
Natural variations
	Alternative sequence	790 – 823	34	Missing in isoform 2.		VSP_013259
Experimental info
	Sequence conflict	114	1	T → N in AAH32944. Ref.5
	Sequence conflict	373	1	P → H in AAH32944. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 29, 2005. Version 3. Checksum: 9E26273B529DB477	FASTA	823	94,223
	10 20 30 40 50 60 MFYVIGGITV SVVAFFFTIK FLFELAARVV SFLQNEDRER RGDRTIYDYV RGNYLDPRSC 70 80 90 100 110 120 KVSWDWKDPY EVGHSMAFRV HLFYKNGQPF PAHRPVGLRV HISHVELAVE IPVTQEVLQE 130 140 150 160 170 180 PNSNVVKVAF TVRKAGRYEI TVKLGGLNVA YSPYYKIFQP GMVVPSKTKI VCHFSTLVLT 190 200 210 220 230 240 CGQPHTLQIV PRDEYDNPTN NSMSLRDEHN YTLSIHELGP QEEESTGVSF EKSVTSNRQT 250 260 270 280 290 300 FQVFLRLTLH SRGCFHACIS YQNQPINNGE FDIIVLSEDE KNIVERNVST SGVSIYFEAY 310 320 330 340 350 360 LYNATNCSST PWHLPPMHMT SSQRRPSTAV DEEDEDSPSE CHTPEKVKKP KKVYCYVSPK 370 380 390 400 410 420 QFSVKEFYLK IIPWRLYTFR VCPGTKFSYL GPDPVHKLLT LVVDDGIQPP VELSCKERNI 430 440 450 460 470 480 LAATFIRSLH KNIGGSETFQ DKVNFFQREL RQVHMKRPHS KVTLKVSRHA LLESSLKATR 490 500 510 520 530 540 NFSISDWSKN FEVVFQDEEA LDWGGPRREW FELICKALFD TTNQLFTRFS DNNQALVHPN 550 560 570 580 590 600 PNRPAHLRLK MYEFAGRLVG KCLYESSLGG AYKQLVRARF TRSFLAQIIG LRMHYKYFET 610 620 630 640 650 660 DDPEFYKSKV CFILNNDMSE MELVFAEEKY NKSGQLDKVV ELMTGGAQTP VTNANKIFYL 670 680 690 700 710 720 NLLAQYRLAS QVKEEVEHFL KGLNELVPEN LLAIFDENEL ELLMCGTGDI SVSDFKAHAV 730 740 750 760 770 780 VVGGSWHFRE KVMRWFWTVV SSLTQEELAR LLQFTTGSSQ LPPGGFAALC PSFQIIAAPT 790 800 810 820 HSTLPTAHTC FNQLCLPTYD SYEEVHRMLQ LAISEGCEGF GML
	Isoform 2 [UniParc]. Checksum: E0E0ACB18FEF96D1	FASTA	789	90,342
	10 20 30 40 50 60 MFYVIGGITV SVVAFFFTIK FLFELAARVV SFLQNEDRER RGDRTIYDYV RGNYLDPRSC 70 80 90 100 110 120 KVSWDWKDPY EVGHSMAFRV HLFYKNGQPF PAHRPVGLRV HISHVELAVE IPVTQEVLQE 130 140 150 160 170 180 PNSNVVKVAF TVRKAGRYEI TVKLGGLNVA YSPYYKIFQP GMVVPSKTKI VCHFSTLVLT 190 200 210 220 230 240 CGQPHTLQIV PRDEYDNPTN NSMSLRDEHN YTLSIHELGP QEEESTGVSF EKSVTSNRQT 250 260 270 280 290 300 FQVFLRLTLH SRGCFHACIS YQNQPINNGE FDIIVLSEDE KNIVERNVST SGVSIYFEAY 310 320 330 340 350 360 LYNATNCSST PWHLPPMHMT SSQRRPSTAV DEEDEDSPSE CHTPEKVKKP KKVYCYVSPK 370 380 390 400 410 420 QFSVKEFYLK IIPWRLYTFR VCPGTKFSYL GPDPVHKLLT LVVDDGIQPP VELSCKERNI 430 440 450 460 470 480 LAATFIRSLH KNIGGSETFQ DKVNFFQREL RQVHMKRPHS KVTLKVSRHA LLESSLKATR 490 500 510 520 530 540 NFSISDWSKN FEVVFQDEEA LDWGGPRREW FELICKALFD TTNQLFTRFS DNNQALVHPN 550 560 570 580 590 600 PNRPAHLRLK MYEFAGRLVG KCLYESSLGG AYKQLVRARF TRSFLAQIIG LRMHYKYFET 610 620 630 640 650 660 DDPEFYKSKV CFILNNDMSE MELVFAEEKY NKSGQLDKVV ELMTGGAQTP VTNANKIFYL 670 680 690 700 710 720 NLLAQYRLAS QVKEEVEHFL KGLNELVPEN LLAIFDENEL ELLMCGTGDI SVSDFKAHAV 730 740 750 760 770 780 VVGGSWHFRE KVMRWFWTVV SSLTQEELAR LLQFTTGSSQ LPPGGFAALC PSFQIIAAPT HSTLPTAHT

References

[1]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Trachea.
[3]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 2). Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB002315 mRNA. Translation: BAA20775.2. Different initiation. AK304217 mRNA. Translation: BAG65089.1. AC007956 Genomic DNA. Translation: AAF61276.1. CH471061 Genomic DNA. Translation: EAW81186.1. BC032944 mRNA. Translation: AAH32944.1.
IPI	IPI00006561. IPI00472646.
RefSeq	NP_001034568.1. NM_001039479.1.
UniGene	Hs.497417.
3D structure databases
ProteinModelPortal	O15033.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15033. 3 interactions.
MINT	MINT-4657782.
PTM databases
PhosphoSite	O15033.
Proteomic databases
PaxDb	O15033.
PRIDE	O15033.
Protocols and materials databases
DNASU	9870.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356357; ENSP00000348714; ENSG00000119682.
GeneID	9870.
KEGG	hsa:9870.
UCSC	uc001xqb.3. human.
Organism-specific databases
CTD	9870.
GeneCards	GC14M075127.
HGNC	HGNC:20363. KIAA0317.
HPA	HPA051306.
neXtProt	NX_O15033.
PharmGKB	PA134985474.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5021.
HOGENOM	HOG000008177.
HOVERGEN	HBG052181.
InParanoid	O15033.
OMA	FTFRVCP.
OrthoDB	EOG4VMFDQ.
PhylomeDB	O15033.
Gene expression databases
ArrayExpress	O15033.
Bgee	O15033.
CleanEx	HS_KIAA0317.
Genevestigator	O15033.
GermOnline	ENSG00000119682. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 1 hit.
InterPro	IPR001298. Filamin. IPR017868. Filamin/ABP280_repeat-like. IPR000569. HECT. IPR013783. Ig-like_fold. IPR014756. Ig_E-set. [Graphical view]
Pfam	PF00630. Filamin. 1 hit. PF00632. HECT. 1 hit. [Graphical view]
SMART	SM00119. HECTc. 1 hit. SM00557. IG_FLMN. 1 hit. [Graphical view]
SUPFAM	SSF56204. HECT. 1 hit. SSF81296. Ig_E-set. 1 hit.
PROSITE	PS50194. FILAMIN_REPEAT. 1 hit. PS50237. HECT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9870.
NextBio	37207.

Entry information

Entry name

K0317_HUMAN

Accession

Primary (citable) accession number: O15033
Secondary accession number(s): B4E2C7, Q7LDY1, Q8IYY9

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	March 29, 2005
Last modified:	May 29, 2013
This is version 90 of the entry and version 3 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.