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Protein

Protein ITPRID1

Gene

ITPRID1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
Protein ITPRID1Curated
Alternative name(s):
Coiled-coil domain-containing protein 129
ITPR-interacting domain-containing protein 1Curated
Gene namesi
Name:ITPRID1Imported
Synonyms:CCDC129Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000180347.13
HGNCiHGNC:27363 ITPRID1
neXtProtiNX_Q6ZRS4

Pathology & Biotechi

Organism-specific databases

DisGeNETi223075
OpenTargetsiENSG00000180347
PharmGKBiPA162381298

Polymorphism and mutation databases

BioMutaiCCDC129
DMDMi302393683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002709631 – 1044Protein ITPRID1Add BLAST1044

Proteomic databases

PaxDbiQ6ZRS4
PeptideAtlasiQ6ZRS4
PRIDEiQ6ZRS4
ProteomicsDBi68165
68166 [Q6ZRS4-2]
68167 [Q6ZRS4-3]

PTM databases

iPTMnetiQ6ZRS4
PhosphoSitePlusiQ6ZRS4

Expressioni

Gene expression databases

BgeeiENSG00000180347 Expressed in 51 organ(s), highest expression level in minor salivary gland
CleanExiHS_CCDC129
ExpressionAtlasiQ6ZRS4 baseline and differential
GenevisibleiQ6ZRS4 HS

Organism-specific databases

HPAiHPA024103

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000384416

Structurei

3D structure databases

ProteinModelPortaliQ6ZRS4
SMRiQ6ZRS4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili896 – 937Sequence analysisAdd BLAST42

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi793 – 834Cys-richAdd BLAST42

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIRH Eukaryota
ENOG410YK4C LUCA
GeneTreeiENSGT00530000063345
HOGENOMiHOG000111385
HOVERGENiHBG080711
InParanoidiQ6ZRS4
OMAiPQSIPEW
OrthoDBiEOG091G011N
PhylomeDBiQ6ZRS4
TreeFamiTF331566

Family and domain databases

InterProiView protein in InterPro
IPR029325 ITPR-bd
IPR029326 SSFA2_C
PfamiView protein in Pfam
PF14722 KRAP_IP3R_bind, 1 hit
PF14723 SSFA2_C, 1 hit
SMARTiView protein in SMART
SM01257 KRAP_IP3R_bind, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZRS4-1) [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
MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT
60 70 80 90 100
IPMLEDSKQE SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD
110 120 130 140 150
YMRSLHQFSE TPILSRGTSF NSCYSTASVP QSIPEWLEFW EIDPVEILLD
160 170 180 190 200
LGFGADEPDI CMQIPARFLG CGSAARGINI RVFLEAQKQR MDIENPNLYG
210 220 230 240 250
RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR TSVSAAKEHR
260 270 280 290 300
RRMGKLLRRA SKQNIRRDCN PEVSESFKVK DEVFVPFTKP WDCGAELAAT
310 320 330 340 350
SINHKQNHLS LSVEHQSLQA CDDLLPYPPH GLLSKQWPCS SMPAKQAPPS
360 370 380 390 400
CVSEGSVKGR TQKENLFQTN KLKSLSHLAG KGPDSFEMEE VQSFEEETGN
410 420 430 440 450
PLDMTSGTVG ARVDRANSCQ SDSSGFLEEP LEPLPLQMPS LPNSQSPAEN
460 470 480 490 500
GGRKPRDQSH SLVSSQDCQL ESDGPDSKSR ASMSFSSQEA NALEQRASVS
510 520 530 540 550
VMEEEFLLEA MEGPPELYIP DMACAKTTTR GECPRKDSHL WQLLPMPHAE
560 570 580 590 600
YEVTRPTATS KYDHPLGFMV THVTEMQDSF VRPEGAGKVQ SHHNESQRSP
610 620 630 640 650
GNDHTQDKFL HVDSEAPREE ESSGFCPHTN HSLLVPESSS QCIPKHSEIT
660 670 680 690 700
PYATDLAQTS EKLIPHLHKL PGDPAQVKSR SGTLGQILPG TEAEMENLPL
710 720 730 740 750
NTGSSRSVMT QMSSSLVSAA QRAVALGTGP RGTSLECTVC DPVTATETRL
760 770 780 790 800
GTKARQLNDA SIQTSALSNK TLTHGPQPLT KSVSLDSGFS SICPMGTCHA
810 820 830 840 850
IPAHCCICCH HHPHCHGERQ SPGPEPSVCR HCLCSLTGHQ EAQFMTTLKA
860 870 880 890 900
LQDTTVRELC SCTVHEMEAM KTICQSFREY LEEIEQHLMG QQALFSRDMS
910 920 930 940 950
EEEREEAEQL QTLREALRQQ VAELEFQLGD RAQQIREGIL LQLEVLTAEP
960 970 980 990 1000
PEHYSNLHQY NWIEESNGQT SCSKIHPGMA PRTVFPPDDG QEAPCSGGTQ
1010 1020 1030 1040
LAAFTPPTLE NSTRMSPSSS AWAKLGPTPL SNCPVGEKDA DVFL
Length:1,044
Mass (Da):115,403
Last modified:August 10, 2010 - v2
Checksum:iAADC89ADA69B8B7B
GO
Isoform 2 (identifier: Q6ZRS4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     244-391: Missing.

Note: No experimental confirmation available.
Show »
Length:896
Mass (Da):98,868
Checksum:iF0A45E42A3F5FA76
GO
Isoform 3 (identifier: Q6ZRS4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Note: No experimental confirmation available.
Show »
Length:952
Mass (Da):104,885
Checksum:i27605E9AA15F2F61
GO
Isoform 4 (identifier: Q6ZRS4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPTTASCKTISLLKLLYSVSLQNYSPM
     998-1044: GTQLAAFTPP...VGEKDADVFL → ELLSAELDPF...FLKTQDSGLL

Note: No experimental confirmation available.
Show »
Length:1,062
Mass (Da):117,716
Checksum:iD141260E5E14596C
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WUB1A0A087WUB1_HUMAN
ITPR-interacting domain-containing ...
ITPRID1
1,054Annotation score:
E7EQ43E7EQ43_HUMAN
ITPR-interacting domain-containing ...
ITPRID1
168Annotation score:
E7ERG9E7ERG9_HUMAN
ITPR-interacting domain-containing ...
ITPRID1
163Annotation score:
B8ZZ49B8ZZ49_HUMAN
ITPR-interacting domain-containing ...
ITPRID1
142Annotation score:

Sequence cautioni

The sequence BAG65223 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti802P → S in BAC87235 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03366032A → D2 PublicationsCorresponds to variant dbSNP:rs7811042Ensembl.1
Natural variantiVAR_035496105L → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_063505377H → R2 PublicationsCorresponds to variant dbSNP:rs10252720Ensembl.1
Natural variantiVAR_033661490A → V2 PublicationsCorresponds to variant dbSNP:rs4141001Ensembl.1
Natural variantiVAR_033662809C → Y2 PublicationsCorresponds to variant dbSNP:rs10247620Ensembl.1
Natural variantiVAR_033663887H → Y. Corresponds to variant dbSNP:rs7799540Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0395861 – 92Missing in isoform 3. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_0450001M → MPTTASCKTISLLKLLYSVS LQNYSPM in isoform 4. 1 Publication1
Alternative sequenceiVSP_039587244 – 391Missing in isoform 2. 1 PublicationAdd BLAST148
Alternative sequenceiVSP_045001998 – 1044GTQLA…ADVFL → ELLSAELDPFFFSSKANNSA KDEKIKSKDFLKTQDSGLL in isoform 4. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095663 mRNA Translation: BAG53101.1
AK128026 mRNA Translation: BAC87235.1
AK295011 mRNA Translation: BAG58071.1
AK304387 mRNA Translation: BAG65223.1 Different initiation.
AC005090 Genomic DNA No translation available.
AC006044 Genomic DNA No translation available.
BC132719 mRNA Translation: AAI32720.1
CCDSiCCDS5435.2 [Q6ZRS4-1]
CCDS59050.1 [Q6ZRS4-4]
RefSeqiNP_001244896.1, NM_001257967.2
NP_001244897.1, NM_001257968.2 [Q6ZRS4-4]
NP_919276.2, NM_194300.4 [Q6ZRS4-1]
XP_011513515.1, XM_011515213.1 [Q6ZRS4-1]
XP_016867360.1, XM_017011871.1 [Q6ZRS4-1]
UniGeneiHs.224269

Genome annotation databases

EnsembliENST00000319386; ENSP00000313062; ENSG00000180347 [Q6ZRS4-2]
ENST00000407970; ENSP00000384416; ENSG00000180347 [Q6ZRS4-1]
ENST00000409210; ENSP00000387214; ENSG00000180347 [Q6ZRS4-3]
ENST00000451887; ENSP00000395835; ENSG00000180347 [Q6ZRS4-4]
GeneIDi223075
KEGGihsa:223075
UCSCiuc003tci.2 human [Q6ZRS4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095663 mRNA Translation: BAG53101.1
AK128026 mRNA Translation: BAC87235.1
AK295011 mRNA Translation: BAG58071.1
AK304387 mRNA Translation: BAG65223.1 Different initiation.
AC005090 Genomic DNA No translation available.
AC006044 Genomic DNA No translation available.
BC132719 mRNA Translation: AAI32720.1
CCDSiCCDS5435.2 [Q6ZRS4-1]
CCDS59050.1 [Q6ZRS4-4]
RefSeqiNP_001244896.1, NM_001257967.2
NP_001244897.1, NM_001257968.2 [Q6ZRS4-4]
NP_919276.2, NM_194300.4 [Q6ZRS4-1]
XP_011513515.1, XM_011515213.1 [Q6ZRS4-1]
XP_016867360.1, XM_017011871.1 [Q6ZRS4-1]
UniGeneiHs.224269

3D structure databases

ProteinModelPortaliQ6ZRS4
SMRiQ6ZRS4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000384416

PTM databases

iPTMnetiQ6ZRS4
PhosphoSitePlusiQ6ZRS4

Polymorphism and mutation databases

BioMutaiCCDC129
DMDMi302393683

Proteomic databases

PaxDbiQ6ZRS4
PeptideAtlasiQ6ZRS4
PRIDEiQ6ZRS4
ProteomicsDBi68165
68166 [Q6ZRS4-2]
68167 [Q6ZRS4-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319386; ENSP00000313062; ENSG00000180347 [Q6ZRS4-2]
ENST00000407970; ENSP00000384416; ENSG00000180347 [Q6ZRS4-1]
ENST00000409210; ENSP00000387214; ENSG00000180347 [Q6ZRS4-3]
ENST00000451887; ENSP00000395835; ENSG00000180347 [Q6ZRS4-4]
GeneIDi223075
KEGGihsa:223075
UCSCiuc003tci.2 human [Q6ZRS4-1]

Organism-specific databases

CTDi223075
DisGeNETi223075
EuPathDBiHostDB:ENSG00000180347.13
GeneCardsiCCDC129
H-InvDBiHIX0006576
HGNCiHGNC:27363 ITPRID1
HPAiHPA024103
neXtProtiNX_Q6ZRS4
OpenTargetsiENSG00000180347
PharmGKBiPA162381298
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIRH Eukaryota
ENOG410YK4C LUCA
GeneTreeiENSGT00530000063345
HOGENOMiHOG000111385
HOVERGENiHBG080711
InParanoidiQ6ZRS4
OMAiPQSIPEW
OrthoDBiEOG091G011N
PhylomeDBiQ6ZRS4
TreeFamiTF331566

Miscellaneous databases

ChiTaRSiCCDC129 human
GenomeRNAii223075
PROiPR:Q6ZRS4

Gene expression databases

BgeeiENSG00000180347 Expressed in 51 organ(s), highest expression level in minor salivary gland
CleanExiHS_CCDC129
ExpressionAtlasiQ6ZRS4 baseline and differential
GenevisibleiQ6ZRS4 HS

Family and domain databases

InterProiView protein in InterPro
IPR029325 ITPR-bd
IPR029326 SSFA2_C
PfamiView protein in Pfam
PF14722 KRAP_IP3R_bind, 1 hit
PF14723 SSFA2_C, 1 hit
SMARTiView protein in SMART
SM01257 KRAP_IP3R_bind, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiITPI1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZRS4
Secondary accession number(s): A2RU17
, B3KTI9, B4DHB0, B4E2R1, F5H3V5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: August 10, 2010
Last modified: October 10, 2018
This is version 92 of the entry and version 2 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 7
    Human chromosome 7: 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
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