Q8WYA0 (IFT81_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Intraflagellar transport protein 81 homolog

Alternative name(s):
Carnitine deficiency-associated protein expressed in ventricle 1
Short name=CDV-1

Gene names

Name:	IFT81
Synonyms:	CDV1

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	676 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Isoform CDV-1 may be involved in cardiac hypertrophy caused by carnitine deficiency By similarity. UniProtKB O35594 Isoform CDV-1R appears to play a role in development of the testis and spermatogenesis By similarity.
Tissue specificity	Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly expressed in testis. Ref.2

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Coding sequence diversity	Alternative initiation Alternative splicing
Domain	Coiled coil
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	centrosome Inferred from electronic annotation. Source: Compara intraflagellar transport particle B Inferred from sequence or structural similarity. Source: BHF-UCL motile cilium Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Alternative products

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

Isoform CDV-1R Ref.1 Ref.2 (identifier: Q8WYA0-1)

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: Q8WYA0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     397-431: FKRYVNKLRSKSTVFKKKHQIIAELKAEFGLLQRT → RQDLTLSPRLECGGVIMAYCSLKLLGSSDPPTSAS
     432-676: Missing.

Note: No experimental confirmation available.

Isoform CDV-1 (identifier: Q8WYA0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-569: Missing.

Note: Produced by alternative initiation at Met-570 of isoform CDV-1R.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 676	676	Intraflagellar transport protein 81 homolog UniProtKB O35594		PRO_0000020916
Regions
	Coiled coil	132 – 258	127	Potential
	Coiled coil	306 – 389	84	Potential
	Coiled coil	416 – 456	41	Potential
	Coiled coil	490 – 622	133	Potential
Amino acid modifications
	Modified residue	61	1	Phosphothreonine Ref.7
Natural variations
	Alternative sequence	1 – 569	569	Missing in isoform CDV-1.		VSP_018784
	Alternative sequence	397 – 431	35	FKRYV…LLQRT → RQDLTLSPRLECGGVIMAYC SLKLLGSSDPPTSAS in isoform 2.		VSP_050695
	Alternative sequence	432 – 676	245	Missing in isoform 2.		VSP_050696
Experimental info
	Sequence conflict	59	1	E → K in BAC03690. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform CDV-1R [UniParc]. Last modified March 1, 2002. Version 1. Checksum: E5EBD887A6BF953E	FASTA	676	79,746
	10 20 30 40 50 60 MSDQIKFIMD SLNKEPFRKN YNLITFDSLE PMQLLQVLSD VLAEIDPKQL VDIREEMPEQ 70 80 90 100 110 120 TAKRMLSLLG ILKYKPSGNA TDMSTFRQGL VIGSKPVIYP VLHWLLQRTN ELKKRAYLAR 130 140 150 160 170 180 FLIKLEVPSE FLQDETVADT NKQYEELMEA FKTLHKEYEQ LKISGFSTAE IRKDISAMEE 190 200 210 220 230 240 EKDQLIKRVE HLKKRVETAQ NHQWMLKIAR QLRVEKEREE YLAQQKQEQK NQLFHAVQRL 250 260 270 280 290 300 QRVQNQLKSM RQAAADAKPE SLMKRLEEEI KFNLYMVTEK FPKELENKKK ELHFLQKVVS 310 320 330 340 350 360 EPAMGHSDLL ELESKINEIN TEINQLIEKK MMRNEPIEGK LSLYRQQASI ISRKKEAKAE 370 380 390 400 410 420 ELQEAKEKLA SLEREASVKR NQTREFDGTE VLKGDEFKRY VNKLRSKSTV FKKKHQIIAE 430 440 450 460 470 480 LKAEFGLLQR TEELLKQRHE NIQQQLQTME EKKGISGYSY TQEELERVSA LKSEVDEMKG 490 500 510 520 530 540 RTLDDMSEMV KKLYSLVSEK KSALASVIKE LRQLRQKYQE LTQECDEKKS QYDSCAAGLE 550 560 570 580 590 600 SNRSKLEQEV RRLREECLQE ESRYHYTNCM IKNLEVQLRR ATDEMKAYIS SDQQEKRKAI 610 620 630 640 650 660 REQYTKNTAE QENLGKKLRE KQKVIRESHG PNMKQAKMWR DLEQLMECKK QCFLKQQSQT 670 SIGQVIQEGG EDRLIL
	Isoform 2 [UniParc]. Checksum: D6C78C86420CE32C	FASTA	431	50,241
	10 20 30 40 50 60 MSDQIKFIMD SLNKEPFRKN YNLITFDSLE PMQLLQVLSD VLAEIDPKQL VDIREEMPEQ 70 80 90 100 110 120 TAKRMLSLLG ILKYKPSGNA TDMSTFRQGL VIGSKPVIYP VLHWLLQRTN ELKKRAYLAR 130 140 150 160 170 180 FLIKLEVPSE FLQDETVADT NKQYEELMEA FKTLHKEYEQ LKISGFSTAE IRKDISAMEE 190 200 210 220 230 240 EKDQLIKRVE HLKKRVETAQ NHQWMLKIAR QLRVEKEREE YLAQQKQEQK NQLFHAVQRL 250 260 270 280 290 300 QRVQNQLKSM RQAAADAKPE SLMKRLEEEI KFNLYMVTEK FPKELENKKK ELHFLQKVVS 310 320 330 340 350 360 EPAMGHSDLL ELESKINEIN TEINQLIEKK MMRNEPIEGK LSLYRQQASI ISRKKEAKAE 370 380 390 400 410 420 ELQEAKEKLA SLEREASVKR NQTREFDGTE VLKGDERQDL TLSPRLECGG VIMAYCSLKL 430 LGSSDPPTSA S
	Isoform CDV-1 [UniParc]. Checksum: 2721396F751403AC	FASTA	107	12,667
	10 20 30 40 50 60 MIKNLEVQLR RATDEMKAYI SSDQQEKRKA IREQYTKNTA EQENLGKKLR EKQKVIRESH 70 80 90 100 GPNMKQAKMW RDLEQLMECK KQCFLKQQSQ TSIGQVIQEG GEDRLIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene." Higashi M., Kobayashi K., Iijima M., Wakana S., Horiuchi M., Yasuda T., Yoshida G., Kanmura Y., Saheki T. Mamm. Genome 11:1053-1057(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1R). Tissue: Lymphocyte.
[2]	"Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation." Peng J., Yu L., Horiuchi M., Zhang P., Huang X., Zhang Y., Li D., Jalil M.A., Zhao S. Mol. Biol. Rep. 29:353-362(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1R), TISSUE SPECIFICITY. Tissue: Testis.
[3]	Hu G. Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1).
[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] (ISOFORMS 2 AND CDV-1). Tissue: Skeletal muscle and Uterus.
[6]	"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] OF 32-676 (ISOFORM CDV-1R). Tissue: Fetal brain.
[7]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-61, MASS SPECTROMETRY. Tissue: Platelet.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF250326 mRNA. Translation: AAL50343.1. AF332010 mRNA. Translation: AAO32947.1. AF139540 mRNA. Translation: AAP97269.1. AF078932 mRNA. Translation: AAD48091.1. CH471054 Genomic DNA. Translation: EAW97898.1. BC004536 mRNA. Translation: AAH04536.2. BC029349 mRNA. Translation: AAH29349.1. BC108257 mRNA. Translation: AAI08258.1. AK091549 mRNA. Translation: BAC03690.1. Sequence problems.
IPI	IPI00027818. IPI00165189. IPI00759494.
RefSeq	NP_001137251.1. NM_001143779.1. NP_054774.2. NM_014055.3. NP_113661.2. NM_031473.3.
UniGene	Hs.528382.
3D structure databases
ProteinModelPortal	Q8WYA0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000242591.
PTM databases
PhosphoSite	Q8WYA0.
Polymorphism databases
DMDM	48474907.
Proteomic databases
PaxDb	Q8WYA0.
PRIDE	Q8WYA0.
Protocols and materials databases
DNASU	28981.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242591; ENSP00000242591; ENSG00000122970. ENST00000361948; ENSP00000355372; ENSG00000122970. ENST00000550748; ENSP00000446868; ENSG00000122970. ENST00000552912; ENSP00000449718; ENSG00000122970.
GeneID	28981.
KEGG	hsa:28981.
UCSC	uc001tqg.3. human. uc001tqh.3. human.
Organism-specific databases
CTD	28981.
GeneCards	GC12P110562.
HGNC	HGNC:14313. IFT81.
HPA	HPA019087. HPA020051.
MIM	605489. gene.
neXtProt	NX_Q8WYA0.
PharmGKB	PA26349.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77882.
HOGENOM	HOG000237323.
HOVERGEN	HBG048817.
InParanoid	Q8WYA0.
OMA	QKVVSEP.
OrthoDB	EOG4KSPJ8.
Gene expression databases
ArrayExpress	Q8WYA0.
Bgee	Q8WYA0.
CleanEx	HS_IFT81.
Genevestigator	Q8WYA0.
GermOnline	ENSG00000122970. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	IFT81. human.
GenomeRNAi	28981.
NextBio	51867.
SOURCE	Search...

Entry information

Entry name

IFT81_HUMAN

Accession

Primary (citable) accession number: Q8WYA0
Secondary accession number(s): Q2YDY1 , Q8NB51, Q9BSV2, Q9UNY8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2004
Last sequence update:	March 1, 2002
Last modified:	April 3, 2013
This is version 86 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.