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Q96JK4

- HIPL1_HUMAN

UniProt

Q96JK4 - HIPL1_HUMAN

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Protein

HHIP-like protein 1

Gene
HHIPL1, HHIP2, KIAA1822, UNQ9245/PRO34761
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor Source: InterPro
  2. quinone binding Source: InterPro
  3. scavenger receptor activity Source: InterPro

GO - Biological processi

  1. carbohydrate metabolic process Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
HHIP-like protein 1
Gene namesi
Name:HHIPL1
Synonyms:HHIP2, KIAA1822
ORF Names:UNQ9245/PRO34761
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19710. HHIPL1.

Subcellular locationi

Secreted Reviewed prediction

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
  2. membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390893.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919 Reviewed predictionAdd
BLAST
Chaini20 – 782763HHIP-like protein 1PRO_0000314962Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi181 ↔ 521 By similarity
Disulfide bondi185 ↔ 528 By similarity
Glycosylationi234 – 2341N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi399 ↔ 417 By similarity
Disulfide bondi484 ↔ 584 By similarity
Disulfide bondi700 ↔ 765 By similarity
Disulfide bondi713 ↔ 775 By similarity
Disulfide bondi745 ↔ 755 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96JK4.
PRIDEiQ96JK4.

PTM databases

PhosphoSiteiQ96JK4.

Expressioni

Gene expression databases

ArrayExpressiQ96JK4.
BgeeiQ96JK4.
CleanExiHS_HHIPL1.
GenevestigatoriQ96JK4.

Organism-specific databases

HPAiHPA047242.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000330601.

Structurei

3D structure databases

ProteinModelPortaliQ96JK4.
SMRiQ96JK4. Positions 184-590, 667-778.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini673 – 776104SRCRAdd
BLAST

Sequence similaritiesi

Belongs to the HHIP family.
Contains 1 SRCR domain.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG2133.
HOGENOMiHOG000244857.
HOVERGENiHBG107978.
OMAiDHGSERI.
OrthoDBiEOG7CZK54.
PhylomeDBiQ96JK4.
TreeFamiTF329059.

Family and domain databases

Gene3Di2.120.10.30. 1 hit.
3.10.250.10. 1 hit.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR018143. Folate_rcpt-like.
IPR012938. Glc/Sorbosone_DH.
IPR011041. Quinoprot_gluc/sorb_DH.
IPR001190. SRCR.
IPR017448. SRCR-like_dom.
[Graphical view]
PfamiPF03024. Folate_rec. 1 hit.
PF07995. GSDH. 1 hit.
PF00530. SRCR. 1 hit.
[Graphical view]
PRINTSiPR00258. SPERACTRCPTR.
SMARTiSM00202. SR. 1 hit.
[Graphical view]
SUPFAMiSSF50952. SSF50952. 1 hit.
SSF56487. SSF56487. 1 hit.
PROSITEiPS00420. SRCR_1. 1 hit.
PS50287. SRCR_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JK4-1) [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

MARARAGALL ALWVLGAAAH PQCLDFRPPF RPTQPLRLCA QYSDFGCCDE    50
GRDAELTRRF WALASRVDAA EWAACAGYAR DLLCQECSPY AAHLYDAEDP 100
FTPLRTVPGL CQDYCLDMWH KCRGLFRHLS TDQELWALEG NLARFCRYLS 150
LDDTDYCFPY LLVNKNLNSN LGHVVADAKG CLQLCLEEVA NGLRNPVAMV 200
HARDGTHRFF VAEQVGLVWA YLPDRSRLGK PFLNISRVVL TSPWEGDERG 250
FLGIAFHPSF QHNRRLYVYY SVGIRSSEWI RISEFRVSED DENAVDHSSE 300
RIILEVKEPA SNHNGGQLLF GDDGYLYIFT GDGGMAGDPF GTFGNAQNKS 350
ALLGKVLRID VDRKERGLPY GIPPDNPFVG DPAAQPEVYA LGVRNMWRCS 400
FDRGDPSSGT GRGRLFCGDV GQNKFEEVDV VERGGNYGWR AREGFECYDR 450
SLCANTSLND LLPIFAYPHT VGKSVTGGYV YRGCEYPNLN GLYIFGDFMS 500
GRLMSLQENP GTGQWQYSEI CMGHGQTCEF PGLINNYYPY IISFGEDEAG 550
ELYFMSTGEP SATAPRGVVY KIIDASRRAP PGKCQIQPAQ VKIRSRLIPF 600
VPKEKFIPKT RSTPRPTARA PTRAPRRGRP TAAPPAPTPR PARPTQQPGS 650
RRGGGRRRGR LNSASRAFRD GEVRLVRPAG LSSGSGRVEV FVGGRWGTVC 700
DDSWNISGAA VVCRQLGFAY AVRAVKRAEF GQGGSLPILL DDVRCAGWER 750
NLLECQHNGV GTHNCEHDED AGVVCSHQNP DL 782
Length:782
Mass (Da):86,731
Last modified:January 15, 2008 - v2
Checksum:i5A6170845C6F9472
GO
Isoform 2 (identifier: Q96JK4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     577-608: RRAPPGKCQIQPAQVKIRSRLIPFVPKEKFIP → SCKARSAMPGYVPAPSVCSSLTSQPFILQWWK
     609-782: Missing.

Show »
Length:608
Mass (Da):67,881
Checksum:i3FC5CDF759808D6B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti692 – 6921V → A.
Corresponds to variant rs7158073 [ dbSNP | Ensembl ].
VAR_060163

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei577 – 60832RRAPP…EKFIP → SCKARSAMPGYVPAPSVCSS LTSQPFILQWWK in isoform 2. VSP_030455Add
BLAST
Alternative sequencei609 – 782174Missing in isoform 2. VSP_030456Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511L → M in AAQ88540. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358173 mRNA. Translation: AAQ88540.1.
AL160313 Genomic DNA. No translation available.
BC132877 mRNA. Translation: AAI32878.1.
BC136577 mRNA. Translation: AAI36578.1.
AB058725 mRNA. Translation: BAB47451.1.
CCDSiCCDS45162.1. [Q96JK4-1]
CCDS9953.1. [Q96JK4-2]
RefSeqiNP_001120730.1. NM_001127258.1. [Q96JK4-1]
NP_115801.3. NM_032425.4. [Q96JK4-2]
UniGeneiHs.288522.

Genome annotation databases

EnsembliENST00000330710; ENSP00000330601; ENSG00000182218. [Q96JK4-1]
ENST00000357223; ENSP00000349757; ENSG00000182218. [Q96JK4-2]
GeneIDi84439.
KEGGihsa:84439.
UCSCiuc001ygl.1. human. [Q96JK4-2]
uc010avs.3. human. [Q96JK4-1]

Polymorphism databases

DMDMi166218135.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358173 mRNA. Translation: AAQ88540.1 .
AL160313 Genomic DNA. No translation available.
BC132877 mRNA. Translation: AAI32878.1 .
BC136577 mRNA. Translation: AAI36578.1 .
AB058725 mRNA. Translation: BAB47451.1 .
CCDSi CCDS45162.1. [Q96JK4-1 ]
CCDS9953.1. [Q96JK4-2 ]
RefSeqi NP_001120730.1. NM_001127258.1. [Q96JK4-1 ]
NP_115801.3. NM_032425.4. [Q96JK4-2 ]
UniGenei Hs.288522.

3D structure databases

ProteinModelPortali Q96JK4.
SMRi Q96JK4. Positions 184-590, 667-778.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000330601.

PTM databases

PhosphoSitei Q96JK4.

Polymorphism databases

DMDMi 166218135.

Proteomic databases

PaxDbi Q96JK4.
PRIDEi Q96JK4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330710 ; ENSP00000330601 ; ENSG00000182218 . [Q96JK4-1 ]
ENST00000357223 ; ENSP00000349757 ; ENSG00000182218 . [Q96JK4-2 ]
GeneIDi 84439.
KEGGi hsa:84439.
UCSCi uc001ygl.1. human. [Q96JK4-2 ]
uc010avs.3. human. [Q96JK4-1 ]

Organism-specific databases

CTDi 84439.
GeneCardsi GC14P100111.
H-InvDB HIX0011961.
HIX0172357.
HGNCi HGNC:19710. HHIPL1.
HPAi HPA047242.
neXtProti NX_Q96JK4.
PharmGKBi PA162390893.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2133.
HOGENOMi HOG000244857.
HOVERGENi HBG107978.
OMAi DHGSERI.
OrthoDBi EOG7CZK54.
PhylomeDBi Q96JK4.
TreeFami TF329059.

Miscellaneous databases

GenomeRNAii 84439.
NextBioi 74187.
PROi Q96JK4.

Gene expression databases

ArrayExpressi Q96JK4.
Bgeei Q96JK4.
CleanExi HS_HHIPL1.
Genevestigatori Q96JK4.

Family and domain databases

Gene3Di 2.120.10.30. 1 hit.
3.10.250.10. 1 hit.
InterProi IPR011042. 6-blade_b-propeller_TolB-like.
IPR018143. Folate_rcpt-like.
IPR012938. Glc/Sorbosone_DH.
IPR011041. Quinoprot_gluc/sorb_DH.
IPR001190. SRCR.
IPR017448. SRCR-like_dom.
[Graphical view ]
Pfami PF03024. Folate_rec. 1 hit.
PF07995. GSDH. 1 hit.
PF00530. SRCR. 1 hit.
[Graphical view ]
PRINTSi PR00258. SPERACTRCPTR.
SMARTi SM00202. SR. 1 hit.
[Graphical view ]
SUPFAMi SSF50952. SSF50952. 1 hit.
SSF56487. SSF56487. 1 hit.
PROSITEi PS00420. SRCR_1. 1 hit.
PS50287. SRCR_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "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].
  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] (ISOFORM 2).
  4. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 250-782 (ISOFORM 1).
    Tissue: Brain.
  5. "Comparative genomics on HHIP family orthologs."
    Katoh Y., Katoh M.
    Int. J. Mol. Med. 17:391-395(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, NOMENCLATURE.

Entry informationi

Entry nameiHIPL1_HUMAN
AccessioniPrimary (citable) accession number: Q96JK4
Secondary accession number(s): A2RUF8, B2RN09, Q6UXX2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [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 14
    Human chromosome 14: 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

External Data

Dasty 3

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