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UniProtKB - Q14689 (DIP2A_HUMAN)

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Protein

Disco-interacting protein 2 homolog A

Gene

DIP2A

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

Functioni

May provide positional cues for axon pathfinding and patterning in the central nervous system.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • metabolic process Source: InterPro
  • multicellular organism development Source: UniProtKB-KW
  • negative regulation of gene expression Source: UniProtKB
  • regulation of apoptotic process Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Disco-interacting protein 2 homolog A
Short name:
DIP2 homolog A
Gene namesi
Name:DIP2A
Synonyms:C21orf106, DIP2, KIAA0184
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160305.17
HGNCiHGNC:17217 DIP2A
MIMi607711 gene
neXtProtiNX_Q14689

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi23181
OpenTargetsiENSG00000160305
PharmGKBiPA134888233

Polymorphism and mutation databases

BioMutaiDIP2A
DMDMi32700084

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799061 – 1571Disco-interacting protein 2 homolog AAdd BLAST1571

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineCombined sources1
Modified residuei132PhosphothreonineBy similarity1
Modified residuei155PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ14689
MaxQBiQ14689
PaxDbiQ14689
PeptideAtlasiQ14689
PRIDEiQ14689
ProteomicsDBi60124
60125 [Q14689-2]
60126 [Q14689-3]
60127 [Q14689-4]

PTM databases

iPTMnetiQ14689
PhosphoSitePlusiQ14689

Expressioni

Tissue specificityi

Low expression in all tissues tested.

Gene expression databases

BgeeiENSG00000160305
CleanExiHS_DIP2A
GenevisibleiQ14689 HS

Organism-specific databases

HPAiHPA052516

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116793, 38 interactors
IntActiQ14689, 25 interactors
MINTiQ14689
STRINGi9606.ENSP00000392066

Structurei

3D structure databases

ProteinModelPortaliQ14689
SMRiQ14689
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 122DMAP-interactionAdd BLAST113

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1114 – 1117Poly-Ala4
Compositional biasi1498 – 1501Poly-Val4

Sequence similaritiesi

Belongs to the DIP2 family.Curated

Phylogenomic databases

eggNOGiKOG3628 Eukaryota
COG0318 LUCA
GeneTreeiENSGT00390000005268
HOGENOMiHOG000045270
HOVERGENiHBG026594
InParanoidiQ14689
OMAiMNRMHVV
OrthoDBiEOG091G00DA
PhylomeDBiQ14689
TreeFamiTF312871

Family and domain databases

InterProiView protein in InterPro
IPR000873 AMP-dep_Synth/Lig
IPR010506 DMAP1-bd
PfamiView protein in Pfam
PF00501 AMP-binding, 2 hits
PF06464 DMAP_binding, 1 hit
SMARTiView protein in SMART
SM01137 DMAP_binding, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14689-1) [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
MADRGCPLEA APLPAEVRES LAELELELSE GDITQKGYEK KRAKLLARYI 
        60         70         80         90        100
PLIQGIDPSL QAENRIPGPS QTTAAAPKQQ KSRPTASRDE RFRSDVHTEA 
       110        120        130        140        150
VQAALAKYKE RKMPMPSKRR SVLVHSSVET YTPPDTSSAS EDEGSLRRPG 
       160        170        180        190        200
RLTSTPLQSH SSVEPWLDRV IQGSSTSSSA SSTSSHPGGR PTTAPSAAAT 
       210        220        230        240        250
PGAAATTALA GLEAHTHIDL HSAPPDVTTG LVEHSYFERP QVASVRSVPR 
       260        270        280        290        300
GCSGSMLETA DGVPVNSRVS SKIQQLLNTL KRPKRPPLKE FFVDDFEELL 
       310        320        330        340        350
EVQQPDPNQP KPEGSETSVL RGEPLTAGVP RPPSLLATLQ RWGTTQPKSP 
       360        370        380        390        400
CLTALDTTGK AVYTLTYGKL WSRSLKLAYT LLNKLTSKNE PLLKPGDRVA 
       410        420        430        440        450
LVFPNSDPVM FMVAFYGCLL AELVPVPIEV PLTRKDAGSQ QVGFLLGSCG 
       460        470        480        490        500
VFLALTTDAC QKGLPKAQTG EVAAFKGWPP LSWLVIDGKH LAKPPKDWHP 
       510        520        530        540        550
LAQDTGTGTA YIEYKTSKEG STVGVTVSHA SLLAQCRALT QACGYSEAET 
       560        570        580        590        600
LTNVLDFKRD AGLWHGVLTS VMNRMHVVSV PYALMKANPL SWIQKVCFYK 
       610        620        630        640        650
ARAALVKSRD MHWSLLAQRG QRDVSLSSLR MLIVADGANP WSISSCDAFL 
       660        670        680        690        700
NVFQSRGLRP EVICPCASSP EALTVAIRRP PDLGGPPPRK AVLSMNGLSY 
       710        720        730        740        750
GVIRVDTEEK LSVLTVQDVG QVMPGANVCV VKLEGTPYLC KTDEVGEICV 
       760        770        780        790        800
SSSATGTAYY GLLGITKNVF EAVPVTTGGA PIFDRPFTRT GLLGFIGPDN 
       810        820        830        840        850
LVFIVGKLDG LMVTGVRRHN ADDVVATALA VEPMKFVYRG RIAVFSVTVL 
       860        870        880        890        900
HDDRIVLVAE QRPDASEEDS FQWMSRVLQA IDSIHQVGVY CLALVPANTL 
       910        920        930        940        950
PKAPLGGIHI SETKQRFLEG TLHPCNVLMC PHTCVTNLPK PRQKQPEVGP 
       960        970        980        990       1000
ASMIVGNLVA GKRIAQASGR ELAHLEDSDQ ARKFLFLADV LQWRAHTTPD 
      1010       1020       1030       1040       1050
HPLFLLLNAK GTVTSTATCV QLHKRAERVA AALMEKGRLS VGDHVALVYP 
      1060       1070       1080       1090       1100
PGVDLIAAFY GCLYCGCVPV TVRPPHPQNL GTTLPTVKMI VEVSKSACVL 
      1110       1120       1130       1140       1150
TTQAVTRLLR SKEAAAAVDI RTWPTILDTD DIPKKKIASV FRPPSPDVLA 
      1160       1170       1180       1190       1200
YLDFSVSTTG ILAGVKMSHA ATSALCRSIK LQCELYPSRQ IAICLDPYCG 
      1210       1220       1230       1240       1250
LGFALWCLCS VYSGHQSVLV PPLELESNVS LWLSAVSQYK ARVTFCSYSV 
      1260       1270       1280       1290       1300
MEMCTKGLGA QTGVLRMKGV NLSCVRTCMV VAEERPRIAL TQSFSKLFKD 
      1310       1320       1330       1340       1350
LGLPARAVST TFGCRVNVAI CLQGTAGPDP TTVYVDMRAL RHDRVRLVER 
      1360       1370       1380       1390       1400
GSPHSLPLME SGKILPGVKV IIAHTETKGP LGDSHLGEIW VSSPHNATGY 
      1410       1420       1430       1440       1450
YTVYGEEALH ADHFSARLSF GDTQTIWART GYLGFLRRTE LTDASGGRHD 
      1460       1470       1480       1490       1500
ALYVVGSLDE TLELRGMRYH PIDIETSVIR AHRSIAECAV FTWTNLLVVV 
      1510       1520       1530       1540       1550
VELDGLEQDA LDLVALVTNV VLEEHYLVVG VVVIVDPGVI PINSRGEKQR 
      1560       1570 
MHLRDGFLAD QLDPIYVAYN M
Length:1,571
Mass (Da):170,369
Last modified:July 11, 2003 - v2
Checksum:i40652BEFA5E9DD7C
GO
Isoform 2 (identifier: Q14689-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     842-1571: Missing.

Show »
Length:841
Mass (Da):90,596
Checksum:iEB6EC2CF223767F1
GO
Isoform 3 (identifier: Q14689-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-261: Missing.
     842-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:798
Mass (Da):86,014
Checksum:i41F5A6A95144B2AF
GO
Isoform 4 (identifier: Q14689-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     880-889: AIDSIHQVGV → VGAPARPMVR
     890-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:889
Mass (Da):96,001
Checksum:i8DE5A4930D97E0B1
GO
Isoform 5 (identifier: Q14689-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-94: Missing.
     1167-1174: MSHAATSA → AGRGGSRL
     1175-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:1,110
Mass (Da):119,468
Checksum:i529BBF9371B642F1
GO
Isoform 6 (identifier: Q14689-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-305: Missing.

Show »
Length:1,567
Mass (Da):169,917
Checksum:i65A460B19A7EF6B3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti702V → F in BAG64412 (PubMed:14702039).Curated1
Sequence conflicti1541P → L in BAF69070 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047372191P → A. Corresponds to variant dbSNP:rs7283507Ensembl.1
Natural variantiVAR_047373372S → N. Corresponds to variant dbSNP:rs16979312Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04540831 – 94Missing in isoform 5. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_007748219 – 261Missing in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_047246302 – 305Missing in isoform 6. 1 Publication4
Alternative sequenceiVSP_007749842 – 1571Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST730
Alternative sequenceiVSP_007750880 – 889AIDSIHQVGV → VGAPARPMVR in isoform 4. 1 Publication10
Alternative sequenceiVSP_007751890 – 1571Missing in isoform 4. 1 PublicationAdd BLAST682
Alternative sequenceiVSP_0454091167 – 1174MSHAATSA → AGRGGSRL in isoform 5. 1 Publication8
Alternative sequenceiVSP_0454101175 – 1571Missing in isoform 5. 1 PublicationAdd BLAST397

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF490768 mRNA Translation: AAM18046.1
AB273729 mRNA Translation: BAF69070.1
AK056738 mRNA Translation: BAB71268.1
AK303351 mRNA Translation: BAG64412.1
AP000337 Genomic DNA No translation available.
AP000338 Genomic DNA No translation available.
BC033718 mRNA Translation: AAH33718.1
BC038443 mRNA Translation: AAH38443.1
D80006 mRNA Translation: BAA11501.1
CCDSiCCDS46655.1 [Q14689-1]
CCDS46656.1 [Q14689-4]
CCDS46657.1 [Q14689-2]
CCDS54490.1 [Q14689-6]
CCDS54491.1 [Q14689-3]
RefSeqiNP_001139587.1, NM_001146115.1 [Q14689-3]
NP_001139588.1, NM_001146116.1 [Q14689-6]
NP_055966.2, NM_015151.3 [Q14689-1]
NP_996772.1, NM_206889.2 [Q14689-4]
NP_996773.1, NM_206890.2 [Q14689-2]
NP_996774.1, NM_206891.2
XP_016883784.1, XM_017028295.1 [Q14689-1]
XP_016883785.1, XM_017028296.1
UniGeneiHs.189585

Genome annotation databases

EnsembliENST00000400274; ENSP00000383133; ENSG00000160305 [Q14689-6]
ENST00000417564; ENSP00000392066; ENSG00000160305 [Q14689-1]
ENST00000435722; ENSP00000415089; ENSG00000160305 [Q14689-2]
ENST00000457905; ENSP00000393434; ENSG00000160305 [Q14689-4]
ENST00000466639; ENSP00000430249; ENSG00000160305 [Q14689-3]
GeneIDi23181
KEGGihsa:23181
UCSCiuc002zjm.4 human [Q14689-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDIP2A_HUMAN
AccessioniPrimary (citable) accession number: Q14689
Secondary accession number(s): A6P4T3
, B4E0F0, E7EMA5, Q8IVA3, Q8N4S2, Q8TD89, Q96ML9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 11, 2003
Last modified: July 18, 2018
This is version 149 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 21
    Human chromosome 21: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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