Q5VV43 (K0319_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dyslexia-associated protein KIAA0319

Gene names

Name:

KIAA0319

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1072 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. Ref.11
Subunit structure	Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis. Ref.9 Ref.10
Subcellular location	Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Note: Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted. Ref.9 Ref.10
Tissue specificity	Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum. Ref.6 Ref.8
Developmental stage	Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain. Ref.7
Post-translational modification	N-glycosylated. Ref.9 O-glycosylated. Ref.9 Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.
Involvement in disease	Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.7
Sequence similarities	Contains 1 MANSC domain. Contains 5 PKD domains.
Sequence caution	The sequence BAA20777.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Neurogenesis
Cellular component	Cell membrane Endosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Transmembrane Transmembrane helix
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of dendrite development Inferred from genetic interaction Ref.11. Source: UniProtKB neuron migration Inferred from genetic interaction Ref.11. Source: UniProtKB
Cellular_component	early endosome Inferred from direct assay Ref.10. Source: UniProtKB early endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay Ref.10. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q5VV43-1)

Also known as: A;

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: Q5VV43-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MAPPTGVLSSLLLLVTIAG → MTRLGWPSPC

Isoform 3 (identifier: Q5VV43-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.

Isoform 4 (identifier: Q5VV43-4)

The sequence of this isoform differs from the canonical sequence as follows:
     953-1013: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 20

20

Potential

Chain

21 – 1072

1052

Dyslexia-associated protein KIAA0319

PRO_0000042946

Regions

Topological domain

21 – 955

935

Extracellular Potential

Transmembrane

956 – 976

21

Helical; Potential

Topological domain

977 – 1072

96

Cytoplasmic Potential

Domain

21 – 99

79

MANSC

Domain

341 – 427

87

PKD 1

Domain

435 – 524

90

PKD 2

Domain

530 – 620

91

PKD 3

Domain

621 – 714

94

PKD 4

Domain

720 – 811

92

PKD 5

Motif

995 – 998

4

Endocytosis signal

Amino acid modifications

Glycosylation

196

1

N-linked (GlcNAc...) Potential

Glycosylation

219

1

N-linked (GlcNAc...) Potential

Glycosylation

262

1

N-linked (GlcNAc...) Potential

Glycosylation

394

1

N-linked (GlcNAc...) Potential

Glycosylation

421

1

N-linked (GlcNAc...) Potential

Glycosylation

498

1

N-linked (GlcNAc...) Potential

Glycosylation

513

1

N-linked (GlcNAc...) Potential

Glycosylation

536

1

N-linked (GlcNAc...) Potential

Glycosylation

551

1

N-linked (GlcNAc...) Potential

Glycosylation

733

1

N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence

1 – 45

45

Missing in isoform 3.

VSP_036234

Alternative sequence

1 – 19

19

MAPPT…VTIAG → MTRLGWPSPC in isoform 2.

VSP_036235

Alternative sequence

953 – 1013

61

Missing in isoform 4.

VSP_044971

Natural variant

142

1

T → P. Ref.1 Ref.3 Ref.5
Corresponds to variant rs4576240 [ dbSNP | Ensembl ].

VAR_023837

Natural variant

311

1

A → T May be associated with susceptibility to dyslexia. Ref.3 Ref.5 Ref.14
Corresponds to variant rs4504469 [ dbSNP | Ensembl ].

VAR_023838

Natural variant

567

1

G → S.
Corresponds to variant rs2744559 [ dbSNP | Ensembl ].

VAR_049505

Natural variant

773

1

S → G.
Corresponds to variant rs2744550 [ dbSNP | Ensembl ].

VAR_049506

Natural variant

774

1

V → A.
Corresponds to variant rs2817191 [ dbSNP | Ensembl ].

VAR_049507

Natural variant

919

1

G → A.
Corresponds to variant rs10946705 [ dbSNP | Ensembl ].

VAR_034032

Natural variant

1013

1

Y → C.
Corresponds to variant rs807534 [ dbSNP | Ensembl ].

VAR_049508

Experimental info

Mutagenesis

995

1

Y → A: Loss of interaction with AP2M1 and impaired endocytosis. Ref.10

Sequence conflict

97

1

R → S in BAG58068. Ref.3

Sequence conflict

157

1

S → A in BAA20777. Ref.1

Sequence conflict

157

1

S → A in AAI52461. Ref.5

Sequence conflict

256

1

L → H in BAG59087. Ref.3

Sequence conflict

926

1

L → I in AAI44629. Ref.5

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1072

Helix Strand Turn

Details...

Beta strand

336 – 338

3

Beta strand

343 – 346

4

Beta strand

352 – 355

4

Beta strand

357 – 360

4

Beta strand

374 – 376

3

Beta strand

389 – 395

7

Beta strand

400 – 405

6

Beta strand

408 – 411

4

Beta strand

414 – 417

4

Beta strand

420 – 425

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified December 7, 2004. Version 1. Checksum: 94F33B03E7FE8C0F	FASTA	1,072	117,763
	10 20 30 40 50 60 MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH TFPVVDCTAA 70 80 90 100 110 120 CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL TFVLRPVQRP AQLLDYGDMM 130 140 150 160 170 180 LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL EEMSEYSDDY RELEKDLLQP SGKQEPRGSA 190 200 210 220 230 240 EYTDWGLLPG SEGAFNSSVG DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT 250 260 270 280 290 300 TPSSGEVLEK EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 310 320 330 340 350 360 EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN EVELKAFVAP 370 380 390 400 410 420 APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV GLYVFKVTVS SENAFGEGFV 430 440 450 460 470 480 NVTVKPARRV NLPPVAVVSP QLQELTLPLT SALIDGSQST DDTEIVSYHW EEINGPFIEE 490 500 510 520 530 540 KTSVDSPVLR LSNLDPGNYS FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT 550 560 570 580 590 600 LPQNSITLNG NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 610 620 630 640 650 660 VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS DDHGIVFYHW 670 680 690 700 710 720 EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG LSSTSTLTVA VKKENNSPPR 730 740 750 760 770 780 ARAGGRHVLV LPNNSITLDG SRSTDDQRIV SYLWIRDGQS PAAGDVIDGS DHSVALQLTN 790 800 810 820 830 840 LVEGVYTFHL RVTDSQGASD TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ 850 860 870 880 890 900 LAVLLNVLDS DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 910 920 930 940 950 960 LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES NCEWSIFYVT 970 980 990 1000 1010 1020 VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN MDEQERMELR PKYGIKHRST 1030 1040 1050 1060 1070 EHNSSLMVSE SEFDSDQDTI FSREKMERGN PKVSMNGSIR NGASFSYCSK DR
	Isoform 2 [UniParc]. Checksum: 144EC867C3FD7CD5	FASTA	1,063	117,057
	10 20 30 40 50 60 MTRLGWPSPC CARKQCSEGR TYSNAVISPN LETTRIMRVS HTFPVVDCTA ACCDLSSCDL 70 80 90 100 110 120 AWWFEGRCYL VSCPHKENCE PKKMGPIRSY LTFVLRPVQR PAQLLDYGDM MLNRGSPSGI 130 140 150 160 170 180 WGDSPEDIRK DLTFLGKDWG LEEMSEYSDD YRELEKDLLQ PSGKQEPRGS AEYTDWGLLP 190 200 210 220 230 240 GSEGAFNSSV GDSPAVPAET QQDPELHYLN ESASTPAPKL PERSVLLPLP TTPSSGEVLE 250 260 270 280 290 300 KEKASQLQEQ SSNSSGKEVL MPSHSLPPAS LELSSVTVEK SPVLTVTPGS TEHSIPTPPT 310 320 330 340 350 360 SAAPSESTPS ELPISPTTAP RTVKELTVSA GDNLIITLPD NEVELKAFVA PAPPVETTYN 370 380 390 400 410 420 YEWNLISHPT DYQGEIKQGH KQTLNLSQLS VGLYVFKVTV SSENAFGEGF VNVTVKPARR 430 440 450 460 470 480 VNLPPVAVVS PQLQELTLPL TSALIDGSQS TDDTEIVSYH WEEINGPFIE EKTSVDSPVL 490 500 510 520 530 540 RLSNLDPGNY SFRLTVTDSD GATNSTTAAL IVNNAVDYPP VANAGPNHTI TLPQNSITLN 550 560 570 580 590 600 GNQSSDDHQI VLYEWSLGPG SEGKHVVMQG VQTPYLHLSA MQEGDYTFQL KVTDSSRQQS 610 620 630 640 650 660 TAVVTVIVQP ENNRPPVAVA GPDKELIFPV ESATLDGSSS SDDHGIVFYH WEHVRGPSAV 670 680 690 700 710 720 EMENIDKAIA TVTGLQVGTY HFRLTVKDQQ GLSSTSTLTV AVKKENNSPP RARAGGRHVL 730 740 750 760 770 780 VLPNNSITLD GSRSTDDQRI VSYLWIRDGQ SPAAGDVIDG SDHSVALQLT NLVEGVYTFH 790 800 810 820 830 840 LRVTDSQGAS DTDTATVEVQ PDPRKSGLVE LTLQVGVGQL TEQRKDTLVR QLAVLLNVLD 850 860 870 880 890 900 SDIKVQKIRA HSDLSTVIVF YVQSRPPFKV LKAAEVARNL HMRLSKEKAD FLLFKVLRVD 910 920 930 940 950 960 TAGCLLKCSG HGHCDPLTKR CICSHLWMEN LIQRYIWDGE SNCEWSIFYV TVLAFTLIVL 970 980 990 1000 1010 1020 TGGFTWLCIC CCKRQKRTKI RKKTKYTILD NMDEQERMEL RPKYGIKHRS TEHNSSLMVS 1030 1040 1050 1060 ESEFDSDQDT IFSREKMERG NPKVSMNGSI RNGASFSYCS KDR
	Isoform 3 [UniParc]. Checksum: 27D81BD05C976D80	FASTA	1,027	113,047
	10 20 30 40 50 60 MRVSHTFPVV DCTAACCDLS SCDLAWWFEG RCYLVSCPHK ENCEPKKMGP IRSYLTFVLR 70 80 90 100 110 120 PVQRPAQLLD YGDMMLNRGS PSGIWGDSPE DIRKDLTFLG KDWGLEEMSE YSDDYRELEK 130 140 150 160 170 180 DLLQPSGKQE PRGSAEYTDW GLLPGSEGAF NSSVGDSPAV PAETQQDPEL HYLNESASTP 190 200 210 220 230 240 APKLPERSVL LPLPTTPSSG EVLEKEKASQ LQEQSSNSSG KEVLMPSHSL PPASLELSSV 250 260 270 280 290 300 TVEKSPVLTV TPGSTEHSIP TPPTSAAPSE STPSELPISP TTAPRTVKEL TVSAGDNLII 310 320 330 340 350 360 TLPDNEVELK AFVAPAPPVE TTYNYEWNLI SHPTDYQGEI KQGHKQTLNL SQLSVGLYVF 370 380 390 400 410 420 KVTVSSENAF GEGFVNVTVK PARRVNLPPV AVVSPQLQEL TLPLTSALID GSQSTDDTEI 430 440 450 460 470 480 VSYHWEEING PFIEEKTSVD SPVLRLSNLD PGNYSFRLTV TDSDGATNST TAALIVNNAV 490 500 510 520 530 540 DYPPVANAGP NHTITLPQNS ITLNGNQSSD DHQIVLYEWS LGPGSEGKHV VMQGVQTPYL 550 560 570 580 590 600 HLSAMQEGDY TFQLKVTDSS RQQSTAVVTV IVQPENNRPP VAVAGPDKEL IFPVESATLD 610 620 630 640 650 660 GSSSSDDHGI VFYHWEHVRG PSAVEMENID KAIATVTGLQ VGTYHFRLTV KDQQGLSSTS 670 680 690 700 710 720 TLTVAVKKEN NSPPRARAGG RHVLVLPNNS ITLDGSRSTD DQRIVSYLWI RDGQSPAAGD 730 740 750 760 770 780 VIDGSDHSVA LQLTNLVEGV YTFHLRVTDS QGASDTDTAT VEVQPDPRKS GLVELTLQVG 790 800 810 820 830 840 VGQLTEQRKD TLVRQLAVLL NVLDSDIKVQ KIRAHSDLST VIVFYVQSRP PFKVLKAAEV 850 860 870 880 890 900 ARNLHMRLSK EKADFLLFKV LRVDTAGCLL KCSGHGHCDP LTKRCICSHL WMENLIQRYI 910 920 930 940 950 960 WDGESNCEWS IFYVTVLAFT LIVLTGGFTW LCICCCKRQK RTKIRKKTKY TILDNMDEQE 970 980 990 1000 1010 1020 RMELRPKYGI KHRSTEHNSS LMVSESEFDS DQDTIFSREK MERGNPKVSM NGSIRNGASF SYCSKDR
	Isoform 4 [UniParc]. Checksum: 6B875CD6ED56D253	FASTA	1,011	110,370
	10 20 30 40 50 60 MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH TFPVVDCTAA 70 80 90 100 110 120 CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL TFVLRPVQRP AQLLDYGDMM 130 140 150 160 170 180 LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL EEMSEYSDDY RELEKDLLQP SGKQEPRGSA 190 200 210 220 230 240 EYTDWGLLPG SEGAFNSSVG DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT 250 260 270 280 290 300 TPSSGEVLEK EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 310 320 330 340 350 360 EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN EVELKAFVAP 370 380 390 400 410 420 APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV GLYVFKVTVS SENAFGEGFV 430 440 450 460 470 480 NVTVKPARRV NLPPVAVVSP QLQELTLPLT SALIDGSQST DDTEIVSYHW EEINGPFIEE 490 500 510 520 530 540 KTSVDSPVLR LSNLDPGNYS FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT 550 560 570 580 590 600 LPQNSITLNG NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 610 620 630 640 650 660 VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS DDHGIVFYHW 670 680 690 700 710 720 EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG LSSTSTLTVA VKKENNSPPR 730 740 750 760 770 780 ARAGGRHVLV LPNNSITLDG SRSTDDQRIV SYLWIRDGQS PAAGDVIDGS DHSVALQLTN 790 800 810 820 830 840 LVEGVYTFHL RVTDSQGASD TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ 850 860 870 880 890 900 LAVLLNVLDS DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 910 920 930 940 950 960 LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES NCGIKHRSTE 970 980 990 1000 1010 HNSSLMVSES EFDSDQDTIF SREKMERGNP KVSMNGSIRN GASFSYCSKD R

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-142. Tissue: Brain.
[2]	Ohara O., Nagase T., Kikuno R., Nomura N. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[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. , 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 1; 2 AND 3), VARIANTS PRO-142 AND THR-311. Tissue: Brain and Thalamus.
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [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 1 AND 2), VARIANTS PRO-142 AND THR-311. Tissue: Brain.
[6]	"A transcription map of the 6p22.3 reading disability locus identifying candidate genes." Londin E.R., Meng H., Gruen J.R. BMC Genomics 4:25-25(2003) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration." Paracchini S., Thomas A., Castro S., Lai C., Paramasivam M., Wang Y., Keating B.J., Taylor J.M., Hacking D.F., Scerri T., Francks C., Richardson A.J., Wade-Martins R., Stein J.F., Knight J.C., Copp A.J., Loturco J., Monaco A.P. Hum. Mol. Genet. 15:1659-1666(2006) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN DYX2, DEVELOPMENTAL STAGE.
[8]	"Alternative splicing in the dyslexia-associated gene KIAA0319." Velayos-Baeza A., Toma C., da Roza S., Paracchini S., Monaco A.P. Mamm. Genome 18:627-634(2007) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[9]	"The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms." Velayos-Baeza A., Toma C., Paracchini S., Monaco A.P. Hum. Mol. Genet. 17:859-871(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT.
[10]	"The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway." Levecque C., Velayos-Baeza A., Holloway Z.G., Monaco A.P. Am. J. Physiol. 297:C160-C168(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF TYR-995, ENDOCYTOSIS SIGNAL, INTERACTION WITH AP2M1.
[11]	"The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat." Peschansky V.J., Burbridge T.J., Volz A.J., Fiondella C., Wissner-Gross Z., Galaburda A.M., Lo Turco J.J., Rosen G.D. Cereb. Cortex 20:884-897(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[12]	"The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage." Velayos-Baeza A., Levecque C., Kobayashi K., Holloway Z.G., Monaco A.P. J. Biol. Chem. 285:40148-40162(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEOLYTIC PROCESSING.
[13]	"Solution structure of the PKD domain (329-428) from human KIAA0319." RIKEN structural genomics initiative (RSGI) Submitted (JUL-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 324-428.
[14]	"Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia." Cope N., Harold D., Hill G., Moskvina V., Stevenson J., Holmans P., Owen M.J., O'Donovan M.C., Williams J. Am. J. Hum. Genet. 76:581-591(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT THR-311.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

The twisted way of things - Issue 125 of January 2011

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AB002317 mRNA. Translation: BAA20777.2. Different initiation.
AK295008 mRNA. Translation: BAG58068.1.
AK296310 mRNA. Translation: BAG59008.1.
AK296426 mRNA. Translation: BAG59087.1.
AL512385, AL031230 Genomic DNA. Translation: CAH71730.1.
AL031230, AL512385 Genomic DNA. Translation: CAI22601.1.
BC140821 mRNA. Translation: AAI40822.1.
BC144628 mRNA. Translation: AAI44629.1.
BC152460 mRNA. Translation: AAI52461.1.

IPI

IPI00006524.
IPI00921389.
IPI00921442.
IPI00922852.

RefSeq

NP_001161846.1. NM_001168374.1.
NP_001161847.1. NM_001168375.1.
NP_001161848.1. NM_001168376.1.
NP_001161849.1. NM_001168377.1.
NP_055624.2. NM_014809.3.

UniGene

Hs.26441.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E7M	NMR	-	A	329-428	[»]

ProteinModelPortal

Q5VV43.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q5VV43. 3 interactions.

STRING

9606.ENSP00000367459.

PTM databases

PhosphoSite

Q5VV43.

Polymorphism databases

DMDM

74747200.

Proteomic databases

PaxDb

Q5VV43.

PRIDE

Q5VV43.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000378214; ENSP00000367459; ENSG00000137261.
ENST00000430948; ENSP00000401086; ENSG00000137261.
ENST00000535378; ENSP00000442403; ENSG00000137261.
ENST00000537886; ENSP00000439700; ENSG00000137261.
ENST00000543707; ENSP00000437656; ENSG00000137261.

GeneID

9856.

KEGG

hsa:9856.

UCSC

uc003neh.1. human.
uc011djq.1. human.

Organism-specific databases

CTD

9856.

GeneCards

GC06M024493.

HGNC

HGNC:21580. KIAA0319.

HPA

HPA015607.

MIM

600202. phenotype.
609269. gene.

neXtProt

NX_Q5VV43.

PharmGKB

PA134936721.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG12793.

HOGENOM

HOG000043880.

HOVERGEN

HBG057130.

InParanoid

Q5VV43.

OMA

NYEWSLI.

OrthoDB

EOG49GKFT.

Gene expression databases

ArrayExpress

Q5VV43.

Bgee

Q5VV43.

CleanEx

HS_KIAA0319.

Genevestigator

Q5VV43.

GermOnline

ENSG00000137261. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.670. 3 hits.

InterPro

IPR003961. Fibronectin_type3.
IPR013980. MANSC.
IPR011106. MANSC_N.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR000601. PKD_dom.
[Graphical view]

Pfam

PF02010. REJ. 1 hit.
[Graphical view]

SMART

SM00060. FN3. 4 hits.
SM00765. MANEC. 1 hit.
SM00089. PKD. 5 hits.
[Graphical view]

SUPFAM

SSF49299. PKD. 4 hits.

PROSITE

PS50986. MANSC. 1 hit.
PS50093. PKD. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

KIAA0319. human.

EvolutionaryTrace

Q5VV43.

GenomeRNAi

9856.

NextBio

37146.

SOURCE

Search...

Entry information

Entry name

K0319_HUMAN

Accession

Primary (citable) accession number: Q5VV43
Secondary accession number(s): A7MD37 , B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q9UJC8, Q9Y4G7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 22, 2005
Last sequence update:	December 7, 2004
Last modified:	May 1, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.