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Protein

Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1

Gene

ITPRIPL1

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

Functioni

Enzyme and pathway databases

SIGNORiQ6GPH6.

Names & Taxonomyi

Protein namesi
Recommended name:
Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1
Gene namesi
Name:ITPRIPL1
Synonyms:KIAA1754L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29371. ITPRIPL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 10379ExtracellularSequence analysisAdd
BLAST
Transmembranei104 – 12421HelicalSequence analysisAdd
BLAST
Topological domaini125 – 555431CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162392345.

Polymorphism and mutation databases

BioMutaiITPRIPL1.
DMDMi74736480.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence analysisAdd
BLAST
Chaini25 – 555531Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1PRO_0000320566Add
BLAST

Proteomic databases

EPDiQ6GPH6.
PaxDbiQ6GPH6.
PRIDEiQ6GPH6.

PTM databases

iPTMnetiQ6GPH6.
PhosphoSiteiQ6GPH6.

Expressioni

Gene expression databases

BgeeiQ6GPH6.
CleanExiHS_ITPRIPL1.
ExpressionAtlasiQ6GPH6. baseline and differential.
GenevisibleiQ6GPH6. HS.

Organism-specific databases

HPAiHPA017985.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO437653EBI-953819,EBI-347996
UBQLN1Q9UMX03EBI-953819,EBI-741480

Protein-protein interaction databases

BioGridi127325. 7 interactions.
IntActiQ6GPH6. 3 interactions.
MINTiMINT-2878896.
STRINGi9606.ENSP00000355121.

Structurei

3D structure databases

ProteinModelPortaliQ6GPH6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili38 – 7437Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the ITPRIP family.Curated

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IKQ2. Eukaryota.
ENOG4111BJ6. LUCA.
GeneTreeiENSGT00530000063794.
HOGENOMiHOG000082468.
HOVERGENiHBG097589.
InParanoidiQ6GPH6.
OrthoDBiEOG7VX8VH.
PhylomeDBiQ6GPH6.
TreeFamiTF332277.

Family and domain databases

InterProiIPR024808. IP3R-int-like_1.
IPR026250. ITPRIP_fam.
IPR024810. Mab-21_dom.
[Graphical view]
PANTHERiPTHR10656:SF40. PTHR10656:SF40. 1 hit.
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
PRINTSiPR02107. INOS145TPRIP.
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q6GPH6-1) [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
MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE
60 70 80 90 100
EMRLLEMEFE ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG
110 120 130 140 150
QEGPLGWMLG NLWNTGLFCL FLVFELLRQN MQHEPAFDSS SEEEEEEVRV
160 170 180 190 200
VPVTSYNWLT DFPSQEALDS FYKHYVQNAI RDLPCTCEFV ESFVDDLIEA
210 220 230 240 250
CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP IVPPQGTMFV
260 270 280 290 300
LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
310 320 330 340 350
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC
360 370 380 390 400
KLRLDYRSGR FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA
410 420 430 440 450
CEHLFLKLVG RFAPENTCHL KCLQIILSLR QHQSLPHGAS RPILTSYHFK
460 470 480 490 500
TALMHLLLRL PLTDWAHNML SQRLQDILWF LGRGLQQRSL HHFLIGNNFL
510 520 530 540 550
PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL TQVKTLPHAP

LAAAP
Length:555
Mass (Da):63,395
Last modified:July 19, 2004 - v1
Checksum:i6B915F09A1ACEBFF
GO
Isoform 2 (identifier: Q6GPH6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MNV → MTTDSYSPTSP

Show »
Length:563
Mass (Da):64,219
Checksum:i7CBCDD2B8075EF81
GO
Isoform 3 (identifier: Q6GPH6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:547
Mass (Da):62,577
Checksum:iAB4B8DB0283FEA53
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti280 – 2801G → R.1 Publication
Corresponds to variant rs17853311 [ dbSNP | Ensembl ].
VAR_039209
Natural varianti428 – 4281S → C.
Corresponds to variant rs35855657 [ dbSNP | Ensembl ].
VAR_039210
Natural varianti463 – 4631T → M.
Corresponds to variant rs2279105 [ dbSNP | Ensembl ].
VAR_039211

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 88Missing in isoform 3. CuratedVSP_054316
Alternative sequencei1 – 33MNV → MTTDSYSPTSP in isoform 2. 1 PublicationVSP_031666

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC021188 Genomic DNA. No translation available.
BC034503 mRNA. Translation: AAH34503.2.
BC073153 mRNA. Translation: AAH73153.1.
CCDSiCCDS33250.1. [Q6GPH6-2]
CCDS46360.1. [Q6GPH6-1]
CCDS54378.1. [Q6GPH6-3]
RefSeqiNP_001008949.1. NM_001008949.2. [Q6GPH6-1]
NP_001156995.1. NM_001163523.1. [Q6GPH6-3]
NP_001156996.1. NM_001163524.1. [Q6GPH6-3]
NP_848590.3. NM_178495.5. [Q6GPH6-2]
UniGeneiHs.65009.

Genome annotation databases

EnsembliENST00000361124; ENSP00000355121; ENSG00000198885. [Q6GPH6-2]
ENST00000439118; ENSP00000389308; ENSG00000198885. [Q6GPH6-1]
ENST00000536814; ENSP00000439566; ENSG00000198885. [Q6GPH6-3]
GeneIDi150771.
KEGGihsa:150771.
UCSCiuc002svx.4. human. [Q6GPH6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC021188 Genomic DNA. No translation available.
BC034503 mRNA. Translation: AAH34503.2.
BC073153 mRNA. Translation: AAH73153.1.
CCDSiCCDS33250.1. [Q6GPH6-2]
CCDS46360.1. [Q6GPH6-1]
CCDS54378.1. [Q6GPH6-3]
RefSeqiNP_001008949.1. NM_001008949.2. [Q6GPH6-1]
NP_001156995.1. NM_001163523.1. [Q6GPH6-3]
NP_001156996.1. NM_001163524.1. [Q6GPH6-3]
NP_848590.3. NM_178495.5. [Q6GPH6-2]
UniGeneiHs.65009.

3D structure databases

ProteinModelPortaliQ6GPH6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127325. 7 interactions.
IntActiQ6GPH6. 3 interactions.
MINTiMINT-2878896.
STRINGi9606.ENSP00000355121.

PTM databases

iPTMnetiQ6GPH6.
PhosphoSiteiQ6GPH6.

Polymorphism and mutation databases

BioMutaiITPRIPL1.
DMDMi74736480.

Proteomic databases

EPDiQ6GPH6.
PaxDbiQ6GPH6.
PRIDEiQ6GPH6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361124; ENSP00000355121; ENSG00000198885. [Q6GPH6-2]
ENST00000439118; ENSP00000389308; ENSG00000198885. [Q6GPH6-1]
ENST00000536814; ENSP00000439566; ENSG00000198885. [Q6GPH6-3]
GeneIDi150771.
KEGGihsa:150771.
UCSCiuc002svx.4. human. [Q6GPH6-1]

Organism-specific databases

CTDi150771.
GeneCardsiITPRIPL1.
HGNCiHGNC:29371. ITPRIPL1.
HPAiHPA017985.
neXtProtiNX_Q6GPH6.
PharmGKBiPA162392345.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKQ2. Eukaryota.
ENOG4111BJ6. LUCA.
GeneTreeiENSGT00530000063794.
HOGENOMiHOG000082468.
HOVERGENiHBG097589.
InParanoidiQ6GPH6.
OrthoDBiEOG7VX8VH.
PhylomeDBiQ6GPH6.
TreeFamiTF332277.

Enzyme and pathway databases

SIGNORiQ6GPH6.

Miscellaneous databases

ChiTaRSiITPRIPL1. human.
GenomeRNAii150771.
PROiQ6GPH6.

Gene expression databases

BgeeiQ6GPH6.
CleanExiHS_ITPRIPL1.
ExpressionAtlasiQ6GPH6. baseline and differential.
GenevisibleiQ6GPH6. HS.

Family and domain databases

InterProiIPR024808. IP3R-int-like_1.
IPR026250. ITPRIP_fam.
IPR024810. Mab-21_dom.
[Graphical view]
PANTHERiPTHR10656:SF40. PTHR10656:SF40. 1 hit.
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
PRINTSiPR02107. INOS145TPRIP.
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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 1 AND 2), VARIANT ARG-280.
    Tissue: Pancreas and Testis.

Entry informationi

Entry nameiIPIL1_HUMAN
AccessioniPrimary (citable) accession number: Q6GPH6
Secondary accession number(s): F5H1L8, Q8NE61
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: July 19, 2004
Last modified: June 8, 2016
This is version 96 of the entry and version 1 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.