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Q14689 (DIP2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Disco-interacting protein 2 homolog A

Short name=DIP2 homolog A
Gene names
Name:DIP2A
Synonyms:C21orf106, DIP2, KIAA0184
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1571 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus Potential.

Tissue specificity

Low expression in all tissues tested.

Sequence similarities

Belongs to the DIP2 family.

Contains 1 DMAP-interaction domain.

Binary interactions

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14689-1)

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.
Isoform 2 (identifier: Q14689-2)

The sequence of this isoform differs from the canonical sequence as follows:
     842-1571: Missing.
Isoform 3 (identifier: Q14689-3)

The sequence of this isoform differs from the canonical sequence as follows:
     219-261: Missing.
     842-1571: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q14689-4)

The sequence of this isoform differs from the canonical sequence as follows:
     880-889: AIDSIHQVGV → VGAPARPMVR
     890-1571: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q14689-5)

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.
Isoform 6 (identifier: Q14689-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15711571Disco-interacting protein 2 homolog A
PRO_0000079906

Regions

Domain10 – 122113DMAP-interaction
Compositional bias1114 – 11174Poly-Ala
Compositional bias1498 – 15014Poly-Val

Natural variations

Alternative sequence31 – 9464Missing in isoform 5.
VSP_045408
Alternative sequence219 – 26143Missing in isoform 3.
VSP_007748
Alternative sequence302 – 3054Missing in isoform 6.
VSP_047246
Alternative sequence842 – 1571730Missing in isoform 2 and isoform 3.
VSP_007749
Alternative sequence880 – 88910AIDSIHQVGV → VGAPARPMVR in isoform 4.
VSP_007750
Alternative sequence890 – 1571682Missing in isoform 4.
VSP_007751
Alternative sequence1167 – 11748MSHAATSA → AGRGGSRL in isoform 5.
VSP_045409
Alternative sequence1175 – 1571397Missing in isoform 5.
VSP_045410
Natural variant1911P → A.
Corresponds to variant rs7283507 [ dbSNP | Ensembl ].
VAR_047372
Natural variant3721S → N.
Corresponds to variant rs16979312 [ dbSNP | Ensembl ].
VAR_047373

Experimental info

Sequence conflict7021V → F in BAG64412. Ref.3
Sequence conflict15411P → L in BAF69070. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 11, 2003. Version 2.
Checksum: 40652BEFA5E9DD7C

FASTA1,571170,369
        10         20         30         40         50         60 
MADRGCPLEA APLPAEVRES LAELELELSE GDITQKGYEK KRAKLLARYI PLIQGIDPSL 

        70         80         90        100        110        120 
QAENRIPGPS QTTAAAPKQQ KSRPTASRDE RFRSDVHTEA VQAALAKYKE RKMPMPSKRR 

       130        140        150        160        170        180 
SVLVHSSVET YTPPDTSSAS EDEGSLRRPG RLTSTPLQSH SSVEPWLDRV IQGSSTSSSA 

       190        200        210        220        230        240 
SSTSSHPGGR PTTAPSAAAT PGAAATTALA GLEAHTHIDL HSAPPDVTTG LVEHSYFERP 

       250        260        270        280        290        300 
QVASVRSVPR GCSGSMLETA DGVPVNSRVS SKIQQLLNTL KRPKRPPLKE FFVDDFEELL 

       310        320        330        340        350        360 
EVQQPDPNQP KPEGSETSVL RGEPLTAGVP RPPSLLATLQ RWGTTQPKSP CLTALDTTGK 

       370        380        390        400        410        420 
AVYTLTYGKL WSRSLKLAYT LLNKLTSKNE PLLKPGDRVA LVFPNSDPVM FMVAFYGCLL 

       430        440        450        460        470        480 
AELVPVPIEV PLTRKDAGSQ QVGFLLGSCG VFLALTTDAC QKGLPKAQTG EVAAFKGWPP 

       490        500        510        520        530        540 
LSWLVIDGKH LAKPPKDWHP LAQDTGTGTA YIEYKTSKEG STVGVTVSHA SLLAQCRALT 

       550        560        570        580        590        600 
QACGYSEAET LTNVLDFKRD AGLWHGVLTS VMNRMHVVSV PYALMKANPL SWIQKVCFYK 

       610        620        630        640        650        660 
ARAALVKSRD MHWSLLAQRG QRDVSLSSLR MLIVADGANP WSISSCDAFL NVFQSRGLRP 

       670        680        690        700        710        720 
EVICPCASSP EALTVAIRRP PDLGGPPPRK AVLSMNGLSY GVIRVDTEEK LSVLTVQDVG 

       730        740        750        760        770        780 
QVMPGANVCV VKLEGTPYLC KTDEVGEICV SSSATGTAYY GLLGITKNVF EAVPVTTGGA 

       790        800        810        820        830        840 
PIFDRPFTRT GLLGFIGPDN LVFIVGKLDG LMVTGVRRHN ADDVVATALA VEPMKFVYRG 

       850        860        870        880        890        900 
RIAVFSVTVL HDDRIVLVAE QRPDASEEDS FQWMSRVLQA IDSIHQVGVY CLALVPANTL 

       910        920        930        940        950        960 
PKAPLGGIHI SETKQRFLEG TLHPCNVLMC PHTCVTNLPK PRQKQPEVGP ASMIVGNLVA 

       970        980        990       1000       1010       1020 
GKRIAQASGR ELAHLEDSDQ ARKFLFLADV LQWRAHTTPD HPLFLLLNAK GTVTSTATCV 

      1030       1040       1050       1060       1070       1080 
QLHKRAERVA AALMEKGRLS VGDHVALVYP PGVDLIAAFY GCLYCGCVPV TVRPPHPQNL 

      1090       1100       1110       1120       1130       1140 
GTTLPTVKMI VEVSKSACVL TTQAVTRLLR SKEAAAAVDI RTWPTILDTD DIPKKKIASV 

      1150       1160       1170       1180       1190       1200 
FRPPSPDVLA YLDFSVSTTG ILAGVKMSHA ATSALCRSIK LQCELYPSRQ IAICLDPYCG 

      1210       1220       1230       1240       1250       1260 
LGFALWCLCS VYSGHQSVLV PPLELESNVS LWLSAVSQYK ARVTFCSYSV MEMCTKGLGA 

      1270       1280       1290       1300       1310       1320 
QTGVLRMKGV NLSCVRTCMV VAEERPRIAL TQSFSKLFKD LGLPARAVST TFGCRVNVAI 

      1330       1340       1350       1360       1370       1380 
CLQGTAGPDP TTVYVDMRAL RHDRVRLVER GSPHSLPLME SGKILPGVKV IIAHTETKGP 

      1390       1400       1410       1420       1430       1440 
LGDSHLGEIW VSSPHNATGY YTVYGEEALH ADHFSARLSF GDTQTIWART GYLGFLRRTE 

      1450       1460       1470       1480       1490       1500 
LTDASGGRHD ALYVVGSLDE TLELRGMRYH PIDIETSVIR AHRSIAECAV FTWTNLLVVV 

      1510       1520       1530       1540       1550       1560 
VELDGLEQDA LDLVALVTNV VLEEHYLVVG VVVIVDPGVI PINSRGEKQR MHLRDGFLAD 

      1570 
QLDPIYVAYN M 

« Hide

Isoform 2 [UniParc].

Checksum: EB6EC2CF223767F1
Show »

FASTA84190,596
Isoform 3 [UniParc].

Checksum: 41F5A6A95144B2AF
Show »

FASTA79886,014
Isoform 4 [UniParc].

Checksum: 8DE5A4930D97E0B1
Show »

FASTA88996,001
Isoform 5 [UniParc].

Checksum: 529BBF9371B642F1
Show »

FASTA1,110119,468
Isoform 6 [UniParc].

Checksum: 65A460B19A7EF6B3
Show »

FASTA1,567169,917

References

« Hide 'large scale' references
[1]"Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis."
Gardiner K., Slavov D., Bechtel L., Davisson M.
Genomics 79:833-843(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
[2]"Human cDNA clone FLA7 encoding a protein homologous to Drosophila disco-interacting protein 2 (Dip2)."
Tanaka M.
Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
Tissue: Placenta and Thymus.
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 3 AND 4).
Tissue: Blood and Mammary carcinoma.
[6]"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1."
Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.
DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-1567 (ISOFORM 1).
Tissue: Bone marrow.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS46655.1. [Q14689-1]
CCDS46656.1. [Q14689-4]
CCDS46657.1. [Q14689-2]
CCDS54490.1. [Q14689-6]
CCDS54491.1. [Q14689-3]
CCDS54492.1. [Q14689-5]
RefSeqNP_001139586.1. NM_001146114.1. [Q14689-5]
NP_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.
UniGeneHs.189585.

3D structure databases

ProteinModelPortalQ14689.
SMRQ14689. Positions 364-922, 987-1571.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116793. 4 interactions.
IntActQ14689. 8 interactions.
MINTMINT-3030046.
STRING9606.ENSP00000392066.

PTM databases

PhosphoSiteQ14689.

Polymorphism databases

DMDM32700084.

Proteomic databases

MaxQBQ14689.
PaxDbQ14689.
PRIDEQ14689.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000400274; ENSP00000383133; ENSG00000160305. [Q14689-6]
ENST00000417564; ENSP00000392066; ENSG00000160305. [Q14689-1]
ENST00000427143; ENSP00000400528; ENSG00000160305. [Q14689-5]
ENST00000435722; ENSP00000415089; ENSG00000160305. [Q14689-2]
ENST00000457905; ENSP00000393434; ENSG00000160305. [Q14689-4]
ENST00000466639; ENSP00000430249; ENSG00000160305. [Q14689-3]
GeneID23181.
KEGGhsa:23181.
UCSCuc002zjl.3. human. [Q14689-1]
uc002zjn.3. human. [Q14689-4]
uc002zjp.1. human. [Q14689-2]
uc010gql.3. human. [Q14689-3]

Organism-specific databases

CTD23181.
GeneCardsGC21P047878.
HGNCHGNC:17217. DIP2A.
HPAHPA052516.
MIM607711. gene.
neXtProtNX_Q14689.
PharmGKBPA134888233.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0318.
HOGENOMHOG000045270.
HOVERGENHBG026594.
InParanoidQ14689.
OrthoDBEOG7D59MW.
PhylomeDBQ14689.
TreeFamTF312871.

Gene expression databases

ArrayExpressQ14689.
BgeeQ14689.
CleanExHS_DIP2A.
GenevestigatorQ14689.

Family and domain databases

InterProIPR000873. AMP-dep_Synth/Lig.
IPR010506. DMAP1-bd.
[Graphical view]
PfamPF00501. AMP-binding. 2 hits.
PF06464. DMAP_binding. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDIP2A. human.
GeneWikiDIP2A.
GenomeRNAi23181.
NextBio44637.
PROQ14689.
SOURCESearch...

Entry information

Entry nameDIP2A_HUMAN
AccessionPrimary (citable) accession number: Q14689
Secondary accession number(s): A6P4T3 expand/collapse secondary AC list , B4E0F0, E7EMA5, Q8IVA3, Q8N4S2, Q8TD89, Q96ML9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 11, 2003
Last modified: July 9, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM