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UniProtKB - Q8N4C6 (NIN_HUMAN)

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Protein

Ninein

Gene

NIN

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

Functioni

Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).3 Publications

Miscellaneous

Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi245 – 252GTPSequence analysis8
Nucleotide bindingi300 – 304GTPSequence analysis5
Nucleotide bindingi420 – 423GTPSequence analysis4

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • centriole-centriole cohesion Source: GO_Central
  • centrosome localization Source: HGNC
  • centrosome-templated microtubule nucleation Source: GO_Central
  • microtubule anchoring at centrosome Source: UniProtKB
  • protein localization Source: GO_Central
View the complete GO annotation on QuickGO ...

Keywordsi

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ8N4C6

Names & Taxonomyi

Protein namesi
Recommended name:
Ninein
Short name:
hNinein
Alternative name(s):
Glycogen synthase kinase 3 beta-interacting protein
Short name:
GSK3B-interacting protein
Gene namesi
Name:NIN
Synonyms:KIAA1565
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 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100503.23
HGNCiHGNC:14906 NIN
MIMi608684 gene
neXtProtiNX_Q8N4C6

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

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Seckel syndrome 7 (SCKL7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
See also OMIM:614851
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0690831222Q → R in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 PublicationCorresponds to variant dbSNP:rs187464517EnsemblClinVar.1
Natural variantiVAR_0690841709N → S in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 PublicationCorresponds to variant dbSNP:rs387907308EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi51199
GeneReviewsiNIN
MalaCardsiNIN
MIMi614851 phenotype
OpenTargetsiENSG00000100503
Orphaneti319675 Microcephalic primordial dwarfism, Dauber type
PharmGKBiPA31630

Polymorphism and mutation databases

BioMutaiNIN
DMDMi311033487

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000968441 – 2090NineinAdd BLAST2090

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei152PhosphoserineCombined sources1
Modified residuei269PhosphoserineBy similarity1
Modified residuei1550PhosphoserineCombined sources1
Modified residuei1837PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N4C6
MaxQBiQ8N4C6
PaxDbiQ8N4C6
PeptideAtlasiQ8N4C6
PRIDEiQ8N4C6
ProteomicsDBi71907
71908 [Q8N4C6-10]
71909 [Q8N4C6-11]
71910 [Q8N4C6-2]
71911 [Q8N4C6-4]
71912 [Q8N4C6-5]
71913 [Q8N4C6-6]
71914 [Q8N4C6-7]
71915 [Q8N4C6-9]

PTM databases

iPTMnetiQ8N4C6
PhosphoSitePlusiQ8N4C6

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.2 Publications

Developmental stagei

In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase and reappears in telophase.1 Publication

Gene expression databases

BgeeiENSG00000100503
ExpressionAtlasiQ8N4C6 baseline and differential
GenevisibleiQ8N4C6 HS

Organism-specific databases

HPAiHPA005939
HPA070691

Interactioni

Subunit structurei

Homooligomer. Interacts with GSK3B/GSK3-beta via its C-terminal domain (PubMed:11004522). Interacts with C14ORF166, such interaction may prevent its phosphorylation by GSK3B (PubMed:15147888). Interacts with AUNIP (via N-terminus) (PubMed:20596670). Identified in a complex with AUNIP and AURKA (PubMed:20596670). Interacts with CCDC120 (PubMed:28422092). Interacts (via C-terminus) with CEP250 (By similarity). Interacts with CEP170 (By similarity). Interacts with the gamma-tubulin ring complex component TUBGCP3 (By similarity). Interacts with gamma-tubulin (By similarity). Isoform 6 does not interact with CEP170 or CEP250 (By similarity).By similarity4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119372, 119 interactors
IntActiQ8N4C6, 109 interactors
MINTiQ8N4C6
STRINGi9606.ENSP00000371472

Structurei

3D structure databases

ProteinModelPortaliQ8N4C6
SMRiQ8N4C6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 43EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini42 – 77EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini182 – 217EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini219 – 252EF-hand 4PROSITE-ProRule annotationAdd BLAST34
Domaini317 – 352EF-hand 5PROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni802 – 1505Important for interaction with CEP170By similarityAdd BLAST704

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili357 – 570Sequence analysisAdd BLAST214
Coiled coili625 – 1027Sequence analysisAdd BLAST403
Coiled coili1068 – 1099Sequence analysisAdd BLAST32
Coiled coili1181 – 1341Sequence analysisAdd BLAST161
Coiled coili1441 – 1816Sequence analysisAdd BLAST376
Coiled coili1854 – 1885Sequence analysisAdd BLAST32
Coiled coili1922 – 2067Sequence analysisAdd BLAST146

Domaini

There is conflicting information regarding the regions required for centrosomal localization. One study shows that the region 1601-1682 is necessary and sufficient for targeting to the centrosome (PubMed:12927815). Another study shows that a separate region, 1291-1575, is important for centrosomal localization (PubMed:15190203). However, a third study shows that the coiled-coil region (373-1885) is not sufficient for centrosomal localization and instead localizes to cytoplasmic speckles (By similarity). The observed differences might be due to oligomerization of the longer coiled-coil domain-containing sequence, which would mask the shorter centrosomal targeting sequences (By similarity).By similarity2 Publications
The N-terminal domain is important for targeting to the mother centriole, although it is not sufficient by itself for centrosomal localization.By similarity

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IK59 Eukaryota
ENOG410Z1RR LUCA
GeneTreeiENSGT00660000095541
HOGENOMiHOG000293170
HOVERGENiHBG052623
InParanoidiQ8N4C6
KOiK16476
OMAiTCSEMQQ
OrthoDBiEOG091G00XA
PhylomeDBiQ8N4C6
TreeFamiTF325139

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR029664 NIN
PANTHERiPTHR18905:SF11 PTHR18905:SF11, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 5 hits

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N4C6-1) [UniParc]FASTAAdd to basket
Also known as: Lm

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
MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ 
        60         70         80         90        100
QTLLQDNLLG RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR 
       110        120        130        140        150
GGKRYGRRSL PEFQESVEEF PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ 
       160        170        180        190        200
RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ DWIEEKLQEV CEDLGITRDG 
       210        220        230        240        250
HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE DFFYGLFKNG 
       260        270        280        290        300
KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD 
       310        320        330        340        350
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL 
       360        370        380        390        400
LVTKNSIHQA ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM 
       410        420        430        440        450
ASEVDDHHAA IERRNEYNLR KLDEEYKERI AALKNELRKE REQILQQAGK 
       460        470        480        490        500
QRLELEQEIE KAKTEENYIR DRLALSLKEN SRLENELLEN AEKLAEYENL 
       510        520        530        540        550
TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY ERQCRVLQDQ 
       560        570        580        590        600
VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP 
       610        620        630        640        650
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA 
       660        670        680        690        700
QENMKQRHEN ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE 
       710        720        730        740        750
KKQLQVKLEE EKTHLQEKLR LQHEMELKAR LTQAQASFER EREGLQSSAW 
       760        770        780        790        800
TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE KEELRKELLE KHQRELQEGR 
       810        820        830        840        850
EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY RQELKDLQEQ 
       860        870        880        890        900
QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT 
       910        920        930        940        950
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE 
       960        970        980        990       1000
REEVLCQAGA SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET 
      1010       1020       1030       1040       1050
ADRERAEMST EISRLQSKIK EMQQATSPLS MLQSGCQVIG EEEVEGDGAL 
      1060       1070       1080       1090       1100
SLLQQGEQLL EENGDVLLSL QRAHEQAVKE NVKMATEISR LQQRLQKLEP 
      1110       1120       1130       1140       1150
GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR RHVLSDLEDD 
      1160       1170       1180       1190       1200
EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI 
      1210       1220       1230       1240       1250
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL 
      1260       1270       1280       1290       1300
LYEDVSREND CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV 
      1310       1320       1330       1340       1350
TETFLSLEKS YDEVKIENEG LNVLVLRLQG KIEKLQESVV QRCDCCLWEA 
      1360       1370       1380       1390       1400
SLENLEIEPD GNILQLNQTL EECVPRVRSV HHVIEECKQE NQYLEGNTQL 
      1410       1420       1430       1440       1450
LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF QDKHFQHQAT 
      1460       1470       1480       1490       1500
IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI 
      1510       1520       1530       1540       1550
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS 
      1560       1570       1580       1590       1600
QEEMWQKTET VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN 
      1610       1620       1630       1640       1650
SQNQEKLQEL NQRLTEMLCQ KEKEPGNSAL EEREQEKFNL KEELERCKVQ 
      1660       1670       1680       1690       1700
SSTLVSSLEA ELSEVKIQTH IVQQENHLLK DELEKMKQLH RCPDLSDFQQ 
      1710       1720       1730       1740       1750
KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI ATMKQEQKSW 
      1760       1770       1780       1790       1800
EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK 
      1810       1820       1830       1840       1850
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ 
      1860       1870       1880       1890       1900
LLWQENERLQ TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP 
      1910       1920       1930       1940       1950
TEQEKLSLKR ECDQFQKEQS PANRKVSQMN SLEQELETIH LENEGLKKKQ 
      1960       1970       1980       1990       2000
VKLDEQLMEM QHLRSTATPS PSPHAWDLQL LQQQACPMVP REQFLQLQRQ 
      2010       2020       2030       2040       2050
LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM IEVEQKLKLV 
      2060       2070       2080       2090
KRLLQEKVNQ LKEQVSLPGH LCSPTSHSSF NSSFTSLYCH
Length:2,090
Mass (Da):243,249
Last modified:November 2, 2010 - v4
Checksum:i51D27CD38A369209
GO
Isoform 2 (identifier: Q8N4C6-2) [UniParc]FASTAAdd to basket
Also known as: Isotype 3

The sequence of this isoform differs from the canonical sequence as follows:
     492-508: Missing.

Note: Dubious isoform produced through aberrant splice sites.
Show »
Length:2,073
Mass (Da):241,191
Checksum:i784E25AE5D1C68DE
GO
Isoform 3 (identifier: Q8N4C6-10) [UniParc]FASTAAdd to basket
Also known as: Isotype 2

The sequence of this isoform differs from the canonical sequence as follows:
     492-508: Missing.
     2065-2090: VSLPGHLCSPTSHSSFNSSFTSLYCH → LCKNTKADAM...PLTSTPPLRS

Note: Dubious isoform produced through aberrant splice sites.
Show »
Length:2,116
Mass (Da):246,135
Checksum:i0A9CEF8ECA2BF346
GO
Isoform 4 (identifier: Q8N4C6-4) [UniParc]FASTAAdd to basket
Also known as: Isotype 1

The sequence of this isoform differs from the canonical sequence as follows:
     492-508: Missing.
     2027-2046: GNQEQLVTVMEERMIEVEQK → ALLPEQRAVHADSYRRIGHL
     2047-2090: Missing.

Note: Dubious isoform produced through aberrant splice sites.
Show »
Length:2,029
Mass (Da):236,135
Checksum:iF994E939809252CB
GO
Isoform 5 (identifier: Q8N4C6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTD → MAEVTVPRVY...HRKIQHVKNE

Show »
Length:2,096
Mass (Da):243,889
Checksum:i32552AFD21D13A70
GO
Isoform 6 (identifier: Q8N4C6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     800-1512: Missing.
     1555-1555: Missing.
     1960-1988: MQHLRSTATPSPSPHAWDLQLLQQQACPM → NSVVGSSREGCSSLPEIVCEDAAPEVHCDA
     1989-2090: Missing.

Note: No experimental confirmation available.
Show »
Length:1,275
Mass (Da):147,799
Checksum:iA34D34D74D9B861C
GO
Isoform 7 (identifier: Q8N4C6-7) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     2065-2090: VSLPGHLCSPTSHSSFNSSFTSLYCH → LCKNTKADAM...PLTSTPPLRS

Note: No experimental confirmation available.
Show »
Length:2,133
Mass (Da):248,194
Checksum:i7B4B1C5A69FD4424
GO
Isoform 8 (identifier: Q8N4C6-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Note: No experimental confirmation available.
Show »
Length:2,052
Mass (Da):238,941
Checksum:i77E187FF00857A7D
GO
Isoform 9 (identifier: Q8N4C6-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     800-1512: Missing.

Note: No experimental confirmation available.
Show »
Length:1,377
Mass (Da):160,136
Checksum:i19AE5E3800593B03
GO

Sequence cautioni

The sequence AAH65521 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH65521 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAK00628 differs from that shown. Several sequencing errors.Curated
The sequence AAK00629 differs from that shown. Several sequencing errors and frameshifts.Curated
The sequence AAK00630 differs from that shown. Several sequencing errors.Curated
The sequence BAB13391 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15640 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti137H → Y in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti137H → Y in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti177S → F in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti203N → D in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti223M → I in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti295F → I in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti369I → V in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti399L → S in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti568L → F in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti809R → I in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti812S → T in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti945K → I in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti977D → A in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti980R → G in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti1054Q → H in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti1067L → F in AAG33512 (PubMed:11162463).Curated1
Sequence conflicti1070L → Q in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti1150D → G in AAF23015 (PubMed:11004522).Curated1
Sequence conflicti1237M → I in AAF23015 (PubMed:11004522).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0194531111P → A. Corresponds to variant dbSNP:rs2236316EnsemblClinVar.1
Natural variantiVAR_0512351125Q → P3 PublicationsCorresponds to variant dbSNP:rs12882191Ensembl.1
Natural variantiVAR_0690831222Q → R in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 PublicationCorresponds to variant dbSNP:rs187464517EnsemblClinVar.1
Natural variantiVAR_0194541320G → E4 PublicationsCorresponds to variant dbSNP:rs2073347Ensembl.1
Natural variantiVAR_0690841709N → S in SCKL7; does not disrupt protein expression or localization or affect mitotic functions in an obvious way. 1 PublicationCorresponds to variant dbSNP:rs387907308EnsemblClinVar.1
Natural variantiVAR_0194551837S → T. Corresponds to variant dbSNP:rs12717411EnsemblClinVar.1
Natural variantiVAR_0512361934Q → E. Corresponds to variant dbSNP:rs2295847EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0400391 – 38Missing in isoform 8. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0109501 – 35MDEVE…EELTD → MAEVTVPRVYVVFGIHCIMA KASSDVQVSGFHRKIQHVKN E in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_010952492 – 508Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_010953800 – 1512Missing in isoform 6 and isoform 9. 2 PublicationsAdd BLAST713
Alternative sequenceiVSP_0109541555Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_0109551960 – 1988MQHLR…QACPM → NSVVGSSREGCSSLPEIVCE DAAPEVHCDA in isoform 6. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0109561989 – 2090Missing in isoform 6. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_0109572027 – 2046GNQEQ…EVEQK → ALLPEQRAVHADSYRRIGHL in isoform 4. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_0109582047 – 2090Missing in isoform 4. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_0109602065 – 2090VSLPG…SLYCH → LCKNTKADAMVKDLYVENAQ LLKALEVTEQRQKTAEKKNY LLEEKIASLSNIVRNLTPAP LTSTPPLRS in isoform 3 and isoform 7. 2 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF212162 mRNA Translation: AAF23015.2
AF302773 mRNA Translation: AAG33512.2
AF223937 mRNA Translation: AAK00628.1 Sequence problems.
AF223938 mRNA Translation: AAK00629.1 Sequence problems.
AF223939 mRNA Translation: AAK00630.1 Sequence problems.
AB046785 mRNA Translation: BAB13391.2 Different initiation.
AL133485 Genomic DNA No translation available.
AL606834 Genomic DNA No translation available.
BC034708 mRNA Translation: AAH34708.2
BC065521 mRNA Translation: AAH65521.1 Sequence problems.
BC090932 mRNA Translation: AAH90932.1
AY027794 mRNA Translation: AAK27375.1
AY027795 mRNA Translation: AAK27376.1
AY027796 mRNA Translation: AAK27377.1
AF186776 mRNA Translation: AAG17027.1
AK027054 mRNA Translation: BAB15640.1 Different initiation.
CCDSiCCDS32078.2 [Q8N4C6-11]
CCDS32079.1 [Q8N4C6-1]
RefSeqiNP_057434.4, NM_016350.4 [Q8N4C6-11]
NP_065972.3, NM_020921.3
NP_891989.2, NM_182944.2
NP_891991.1, NM_182946.1
XP_011535125.1, XM_011536823.2 [Q8N4C6-5]
UniGeneiHs.310429
Hs.569387

Genome annotation databases

EnsembliENST00000245441; ENSP00000245441; ENSG00000100503 [Q8N4C6-7]
ENST00000324330; ENSP00000324210; ENSG00000100503 [Q8N4C6-11]
ENST00000382041; ENSP00000371472; ENSG00000100503 [Q8N4C6-1]
ENST00000382043; ENSP00000371474; ENSG00000100503 [Q8N4C6-11]
ENST00000530997; ENSP00000436092; ENSG00000100503 [Q8N4C6-7]
GeneIDi51199
KEGGihsa:51199
UCSCiuc001wyi.3 human [Q8N4C6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNIN_HUMAN
AccessioniPrimary (citable) accession number: Q8N4C6
Secondary accession number(s): A6NDB8
, B7WPA3, C9JSB6, C9JSG2, C9JXL2, Q5BKU3, Q6P0P6, Q9BWU6, Q9C012, Q9C013, Q9C014, Q9H5I6, Q9HAT7, Q9HBY5, Q9HCK7, Q9UH61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: November 2, 2010
Last modified: July 18, 2018
This is version 152 of the entry and version 4 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 14
    Human chromosome 14: 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

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