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Protein

Phytanoyl-CoA hydroxylase-interacting protein-like

Gene

PHYHIPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the development of the central system.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Phytanoyl-CoA hydroxylase-interacting protein-like
Gene namesi
Name:PHYHIPL
Synonyms:KIAA1796
ORF Names:UNQ6309/PRO20934
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:29378. PHYHIPL.

Subcellular locationi

GO - Cellular componenti

Pathology & Biotechi

Organism-specific databases

DisGeNETi84457.
OpenTargetsiENSG00000165443.
PharmGKBiPA134906827.

Polymorphism and mutation databases

BioMutaiPHYHIPL.
DMDMi296439274.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003386411 – 376Phytanoyl-CoA hydroxylase-interacting protein-likeAdd BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineBy similarity1
Modified residuei15PhosphoserineBy similarity1
Glycosylationi23N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei25PhosphoserineBy similarity1
Glycosylationi37N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ96FC7.
PaxDbiQ96FC7.
PeptideAtlasiQ96FC7.
PRIDEiQ96FC7.

PTM databases

iPTMnetiQ96FC7.
PhosphoSitePlusiQ96FC7.

Expressioni

Gene expression databases

BgeeiENSG00000165443.
CleanExiHS_PHYHIPL.
GenevisibleiQ96FC7. HS.

Organism-specific databases

HPAiHPA038746.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124092. 15 interactors.
IntActiQ96FC7. 2 interactors.
MINTiMINT-1444917.
STRINGi9606.ENSP00000362987.

Structurei

3D structure databases

ProteinModelPortaliQ96FC7.
SMRiQ96FC7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini52 – 161Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST110

Sequence similaritiesi

Belongs to the PHYHIP family.Curated

Phylogenomic databases

eggNOGiENOG410IEM3. Eukaryota.
ENOG410Y0U7. LUCA.
GeneTreeiENSGT00390000014563.
HOVERGENiHBG053596.
InParanoidiQ96FC7.
OMAiLVFHHAQ.
OrthoDBiEOG091G15WA.
PhylomeDBiQ96FC7.
TreeFamiTF314485.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiView protein in InterPro
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
PfamiView protein in Pfam
PF00041. fn3. 1 hit.
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiView protein in PROSITE
PS50853. FN3. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96FC7-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEVPRLDHAL NSPTSPCEEV IKNLSLEAIQ LCDRDGNKSQ DSGIAEMEEL
60 70 80 90 100
PVPHNIKISN ITCDSFKISW EMDSKSKDRI THYFIDLNKK ENKNSNKFKH
110 120 130 140 150
KDVPTKLVAK AVPLPMTVRG HWFLSPRTEY TVAVQTASKQ VDGDYVVSEW
160 170 180 190 200
SEIIEFCTAD YSKVHLTQLL EKAEVIAGRM LKFSVFYRNQ HKEYFDYVRE
210 220 230 240 250
HHGNAMQPSV KDNSGSHGSP ISGKLEGIFF SCSTEFNTGK PPQDSPYGRY
260 270 280 290 300
RFEIAAEKLF NPNTNLYFGD FYCMYTAYHY VILVIAPVGS PGDEFCKQRL
310 320 330 340 350
PQLNSKDNKF LTCTEEDGVL VYHHAQDVIL EVIYTDPVDL SVGTVAEITG
360 370
HQLMSLSTAN AKKDPSCKTC NISVGR
Length:376
Mass (Da):42,486
Last modified:May 18, 2010 - v3
Checksum:i82B811267DFF088C
GO
Isoform 2 (identifier: Q96FC7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MEVPRLDHALNSPTSPCEEVIKNLSLEAIQLCDRDG → MCCDSDFVAR

Show »
Length:350
Mass (Da):39,638
Checksum:i8ED6065B4AB4CDE8
GO
Isoform 3 (identifier: Q96FC7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-49: GNKSQDSGIAEMEE → VVFEELTSKQTRKG
     50-376: Missing.

Show »
Length:49
Mass (Da):5,541
Checksum:iF45A14AF238B8B05
GO

Sequence cautioni

The sequence AAQ88529 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB97028 differs from that shown. Reason: Frameshift at position 350.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043817342V → L7 PublicationsCorresponds to variant dbSNP:rs2452505Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0340671 – 36MEVPR…CDRDG → MCCDSDFVAR in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_03406836 – 49GNKSQ…AEMEE → VVFEELTSKQTRKG in isoform 3. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_03406950 – 376Missing in isoform 3. 1 PublicationAdd BLAST327

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL365474 mRNA. Translation: CAB97028.1. Frameshift.
AK054956 mRNA. Translation: BAB70832.1.
AL834339 mRNA. Translation: CAD39006.1.
CR749429 mRNA. Translation: CAH18267.1.
AC016398 Genomic DNA. No translation available.
AC025038 Genomic DNA. No translation available.
CH471083 Genomic DNA. Translation: EAW54185.1.
BC011268 mRNA. Translation: AAH11268.2.
AY358162 mRNA. Translation: AAQ88529.1. Different initiation.
AB058699 mRNA. Translation: BAB47425.1.
CCDSiCCDS44405.1. [Q96FC7-2]
CCDS7254.1. [Q96FC7-1]
RefSeqiNP_001137246.1. NM_001143774.1. [Q96FC7-2]
NP_115815.2. NM_032439.3. [Q96FC7-1]
UniGeneiHs.499704.

Genome annotation databases

EnsembliENST00000373878; ENSP00000362985; ENSG00000165443. [Q96FC7-2]
ENST00000373880; ENSP00000362987; ENSG00000165443. [Q96FC7-1]
ENST00000486074; ENSP00000423634; ENSG00000165443. [Q96FC7-3]
GeneIDi84457.
KEGGihsa:84457.
UCSCiuc001jkk.5. human. [Q96FC7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPHIPL_HUMAN
AccessioniPrimary (citable) accession number: Q96FC7
Secondary accession number(s): B7WP61
, Q68DF3, Q6UXY3, Q8N3W3, Q96JM9, Q96NP7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: May 18, 2010
Last modified: August 30, 2017
This is version 133 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families