Q92561 (PHYIP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phytanoyl-CoA hydroxylase-interacting protein

Alternative name(s):
Phytanoyl-CoA hydroxylase-associated protein 1
Short name=PAHX-AP1
Short name=PAHXAP1

Gene names

Name:	PHYHIP
Synonyms:	DYRK1AP3, KIAA0273

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

General annotation (Comments)

Function	Its interaction with PHYH suggests a role in the development of the central system.
Subunit structure	Interacts with PHYH and BAI1. Ref.4
Tissue specificity	Highly expressed in the brain. Ref.4
Sequence similarities	Belongs to the PHYHIP family. Contains 1 fibronectin type-III domain.
Sequence caution	The sequence BAA13402.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 330	330	Phytanoyl-CoA hydroxylase-interacting protein		PRO_0000058416
Regions
	Domain	3 – 108	106	Fibronectin type-III
Amino acid modifications
	Glycosylation	14	1	N-linked (GlcNAc...) Potential
	Glycosylation	325	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	21	1	R → S. Corresponds to variant rs11547660 [ dbSNP | Ensembl ].		VAR_018475
Experimental info
	Sequence conflict	150	1	Q → E in AAH34034. Ref.3
	Sequence conflict	150	1	Q → E in AAH35940. Ref.3
	Sequence conflict	245	1	L → M in AAH34034. Ref.3
	Sequence conflict	245	1	L → M in AAH35940. Ref.3
	Sequence conflict	254	1	L → R in AAH34034. Ref.3
	Sequence conflict	254	1	L → R in AAH35940. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q92561 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 777199E6BB071D1C	FASTA	330	37,573
	10 20 30 40 50 60 MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN KFKHRDVPTK 70 80 90 100 110 120 LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL VSGWSETVEF CTGDYAKEHL 130 140 150 160 170 180 AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ HARTHCGNML QPYLKDNSGS HGSPTSGMLH 190 200 210 220 230 240 GVFFSCNTEF NTGQPPQDSP YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA 250 260 270 280 290 300 PKGSLGDRFC RDRLPLLDIA CNKFLTCSVE DGELVFRHAQ DLILEIIYTE PVDLSLGTLG 310 320 330 EISGHQLMSL STADAKKDPS CKTCNISVGR

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]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]. Tissue: Brain.
[4]	"Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase." Lee Z.H., Kim H.-H., Ahn K.Y., Seo K.H., Kim J.K., Bae C.S., Kim K.K. Brain Res. Mol. Brain Res. 75:237-247(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INTERACTION WITH PHYH.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D87463 mRNA. Translation: BAA13402.2. Different initiation. CH471080 Genomic DNA. Translation: EAW63693.1. CH471080 Genomic DNA. Translation: EAW63694.1. BC034034 mRNA. Translation: AAH34034.1. BC035940 mRNA. Translation: AAH35940.1.
IPI	IPI00022021.
RefSeq	NP_001092805.1. NM_001099335.1. NP_055574.3. NM_014759.3.
UniGene	Hs.334688.
3D structure databases
ProteinModelPortal	Q92561.
SMR	Q92561. Positions 3-115.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92561. 21 interactions.
STRING	9606.ENSP00000362987.
PTM databases
PhosphoSite	Q92561.
Polymorphism databases
DMDM	2495731.
Proteomic databases
PaxDb	Q92561.
PRIDE	Q92561.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321613; ENSP00000320017; ENSG00000168490. ENST00000454243; ENSP00000415491; ENSG00000168490.
GeneID	9796.
KEGG	hsa:9796.
UCSC	uc003xbj.4. human.
Organism-specific databases
CTD	9796.
GeneCards	GC08M022077.
HGNC	HGNC:16865. PHYHIP.
MIM	608511. gene.
neXtProt	NX_Q92561.
PharmGKB	PA33281.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG81522.
HOGENOM	HOG000116361.
HOVERGEN	HBG053596.
InParanoid	Q92561.
OMA	WAMENSD.
OrthoDB	EOG4ZCT4N.
PhylomeDB	Q92561.
Gene expression databases
ArrayExpress	Q92561.
Bgee	Q92561.
CleanEx	HS_PHYHIP.
Genevestigator	Q92561.
GermOnline	ENSG00000168490. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 1 hit.
InterPro	IPR003961. Fibronectin_type3. IPR013783. Ig-like_fold. [Graphical view]
SMART	SM00060. FN3. 1 hit. [Graphical view]
SUPFAM	SSF49265. FN_III-like. 1 hit.
PROSITE	PS50853. FN3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PHYHIP. human.
GenomeRNAi	9796.
NextBio	36890.
SOURCE	Search...

Entry information

Entry name

PHYIP_HUMAN

Accession

Primary (citable) accession number: Q92561
Secondary accession number(s): D3DSR1, Q8N4I9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 1, 1997
Last modified:	April 3, 2013
This is version 104 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.