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Protein

UPF0577 protein KIAA1324

Gene

KIAA1324

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway.1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • autophagosome assembly Source: BHF-UCL
  • cellular response to starvation Source: BHF-UCL
  • positive regulation of autophagosome assembly Source: BHF-UCL
  • positive regulation of vacuole organization Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Autophagy

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0577 protein KIAA1324
Alternative name(s):
Estrogen-induced gene 121 protein
Gene namesi
Name:KIAA1324
Synonyms:EIG121
ORF Names:UNQ2426/PRO4985
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29618. KIAA1324.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini42 – 910869ExtracellularSequence analysisAdd
BLAST
Transmembranei911 – 93121HelicalSequence analysisAdd
BLAST
Topological domaini932 – 101382CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: BHF-UCL
  • late endosome membrane Source: UniProtKB-SubCell
  • lysosomal membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endosome, Golgi apparatus, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671607.

Polymorphism and mutation databases

BioMutaiKIAA1324.
DMDMi147647000.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4141Sequence analysisAdd
BLAST
Chaini42 – 1013972UPF0577 protein KIAA1324PRO_0000286600Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi153 – 1531N-linked (GlcNAc...)Sequence analysis
Disulfide bondi278 ↔ 295By similarity
Disulfide bondi308 ↔ 330By similarity
Disulfide bondi311 ↔ 342By similarity
Glycosylationi404 – 4041N-linked (GlcNAc...)Sequence analysis
Glycosylationi672 – 6721N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ6UXG2.
MaxQBiQ6UXG2.
PaxDbiQ6UXG2.
PRIDEiQ6UXG2.

PTM databases

iPTMnetiQ6UXG2.
PhosphoSiteiQ6UXG2.

Expressioni

Tissue specificityi

Expressed in normal endometrium but overexpressed in endometroid tumors.1 Publication

Inductioni

By estrogen replacement therapy.1 Publication

Gene expression databases

BgeeiQ6UXG2.
CleanExiHS_KIAA1324.
ExpressionAtlasiQ6UXG2. baseline and differential.
GenevisibleiQ6UXG2. HS.

Organism-specific databases

HPAiHPA029869.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000358955.

Structurei

3D structure databases

ProteinModelPortaliQ6UXG2.
SMRiQ6UXG2. Positions 291-316.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UPF0577 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IR78. Eukaryota.
ENOG410ZI6Z. LUCA.
GeneTreeiENSGT00390000011781.
HOGENOMiHOG000006645.
HOVERGENiHBG058349.
InParanoidiQ6UXG2.
OMAiTSKRTPD.
OrthoDBiEOG7PCJG2.
PhylomeDBiQ6UXG2.
TreeFamiTF315906.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR009011. Man6P_isomerase_rcpt-bd_dom.
IPR011641. Tyr-kin_ephrin_A/B_rcpt-like.
[Graphical view]
SMARTiSM01411. Ephrin_rec_like. 4 hits.
[Graphical view]
SUPFAMiSSF50911. SSF50911. 1 hit.
SSF57184. SSF57184. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q6UXG2-1) [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
MAEPGHSHHL SARVRGRTER RIPRLWRLLL WAGTAFQVTQ GTGPELHACK
60 70 80 90 100
ESEYHYEYTA CDSTGSRWRV AVPHTPGLCT SLPDPIKGTE CSFSCNAGEF
110 120 130 140 150
LDMKDQSCKP CAEGRYSLGT GIRFDEWDEL PHGFASLSAN MELDDSAAES
160 170 180 190 200
TGNCTSSKWV PRGDYIASNT DECTATLMYA VNLKQSGTVN FEYYYPDSSI
210 220 230 240 250
IFEFFVQNDQ CQPNADDSRW MKTTEKGWEF HSVELNRGNN VLYWRTTAFS
260 270 280 290 300
VWTKVPKPVL VRNIAITGVA YTSECFPCKP GTYADKQGSS FCKLCPANSY
310 320 330 340 350
SNKGETSCHQ CDPDKYSEKG SSSCNVRPAC TDKDYFYTHT ACDANGETQL
360 370 380 390 400
MYKWAKPKIC SEDLEGAVKL PASGVKTHCP PCNPGFFKTN NSTCQPCPYG
410 420 430 440 450
SYSNGSDCTR CPAGTEPAVG FEYKWWNTLP TNMETTVLSG INFEYKGMTG
460 470 480 490 500
WEVAGDHIYT AAGASDNDFM ILTLVVPGFR PPQSVMADTE NKEVARITFV
510 520 530 540 550
FETLCSVNCE LYFMVGVNSR TNTPVETWKG SKGKQSYTYI IEENTTTSFT
560 570 580 590 600
WAFQRTTFHE ASRKYTNDVA KIYSINVTNV MNGVASYCRP CALEASDVGS
610 620 630 640 650
SCTSCPAGYY IDRDSGTCHS CPTNTILKAH QPYGVQACVP CGPGTKNNKI
660 670 680 690 700
HSLCYNDCTF SRNTPTRTFN YNFSALANTV TLAGGPSFTS KGLKYFHHFT
710 720 730 740 750
LSLCGNQGRK MSVCTDNVTD LRIPEGESGF SKSITAYVCQ AVIIPPEVTG
760 770 780 790 800
YKAGVSSQPV SLADRLIGVT TDMTLDGITS PAELFHLESL GIPDVIFFYR
810 820 830 840 850
SNDVTQSCSS GRSTTIRVRC SPQKTVPGSL LLPGTCSDGT CDGCNFHFLW
860 870 880 890 900
ESAAACPLCS VADYHAIVSS CVAGIQKTTY VWREPKLCSG GISLPEQRVT
910 920 930 940 950
ICKTIDFWLK VGISAGTCTA ILLTVLTCYF WKKNQKLEYK YSKLVMNATL
960 970 980 990 1000
KDCDLPAADS CAIMEGEDVE DDLIFTSKKS LFGKIKSFTS KRTPDGFDSV
1010
PLKTSSGGLD MDL
Length:1,013
Mass (Da):111,382
Last modified:May 15, 2007 - v2
Checksum:i875440C1946582A7
GO
Isoform 2 (identifier: Q6UXG2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     992-1013: RTPDGFDSVPLKTSSGGLDMDL → FKDS

Show »
Length:995
Mass (Da):109,569
Checksum:i29FE1588BDA804F7
GO
Isoform 3 (identifier: Q6UXG2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-347: Missing.

Show »
Length:926
Mass (Da):101,974
Checksum:iE9A63508868186CF
GO
Isoform 4 (identifier: Q6UXG2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     992-1013: RTPDGFDSVPLKTSSGGLDMDL → QPAPVTISLSEDS

Show »
Length:1,004
Mass (Da):110,416
Checksum:iFEE6C175B7C1A3C7
GO

Sequence cautioni

The sequence CAI13596.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI13597.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI13598.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI22280.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti239 – 2391N → K in AAI25209 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti86 – 861I → V.2 Publications
Corresponds to variant rs678238 [ dbSNP | Ensembl ].
VAR_032138
Natural varianti623 – 6231T → P.3 Publications
Corresponds to variant rs659543 [ dbSNP | Ensembl ].
VAR_032139
Natural varianti829 – 8291S → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_035751
Natural varianti1009 – 10091L → P.1 Publication
Corresponds to variant rs1052878 [ dbSNP | Ensembl ].
VAR_032140

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei261 – 34787Missing in isoform 3. 1 PublicationVSP_025115Add
BLAST
Alternative sequencei992 – 101322RTPDG…LDMDL → FKDS in isoform 2. 1 PublicationVSP_025116Add
BLAST
Alternative sequencei992 – 101322RTPDG…LDMDL → QPAPVTISLSEDS in isoform 4. 1 PublicationVSP_025117Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358366 mRNA. Translation: AAQ88732.1.
AL138933, AL356389 Genomic DNA. Translation: CAI22280.1. Sequence problems.
AL356389, AL138933 Genomic DNA. Translation: CAI13596.1. Sequence problems.
AL356389 Genomic DNA. Translation: CAI13597.1. Sequence problems.
AL356389 Genomic DNA. Translation: CAI13598.1. Sequence problems.
BC125208 mRNA. Translation: AAI25209.1.
AB037745 mRNA. Translation: BAA92562.1.
CCDSiCCDS58015.1. [Q6UXG2-3]
CCDS794.1. [Q6UXG2-1]
RefSeqiNP_001253977.1. NM_001267048.1.
NP_065826.2. NM_020775.4.
XP_011540127.1. XM_011541825.1. [Q6UXG2-4]
UniGeneiHs.708190.

Genome annotation databases

EnsembliENST00000369939; ENSP00000358955; ENSG00000116299. [Q6UXG2-1]
ENST00000529753; ENSP00000434595; ENSG00000116299. [Q6UXG2-3]
GeneIDi57535.
KEGGihsa:57535.
UCSCiuc009wey.4. human. [Q6UXG2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358366 mRNA. Translation: AAQ88732.1.
AL138933, AL356389 Genomic DNA. Translation: CAI22280.1. Sequence problems.
AL356389, AL138933 Genomic DNA. Translation: CAI13596.1. Sequence problems.
AL356389 Genomic DNA. Translation: CAI13597.1. Sequence problems.
AL356389 Genomic DNA. Translation: CAI13598.1. Sequence problems.
BC125208 mRNA. Translation: AAI25209.1.
AB037745 mRNA. Translation: BAA92562.1.
CCDSiCCDS58015.1. [Q6UXG2-3]
CCDS794.1. [Q6UXG2-1]
RefSeqiNP_001253977.1. NM_001267048.1.
NP_065826.2. NM_020775.4.
XP_011540127.1. XM_011541825.1. [Q6UXG2-4]
UniGeneiHs.708190.

3D structure databases

ProteinModelPortaliQ6UXG2.
SMRiQ6UXG2. Positions 291-316.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000358955.

PTM databases

iPTMnetiQ6UXG2.
PhosphoSiteiQ6UXG2.

Polymorphism and mutation databases

BioMutaiKIAA1324.
DMDMi147647000.

Proteomic databases

EPDiQ6UXG2.
MaxQBiQ6UXG2.
PaxDbiQ6UXG2.
PRIDEiQ6UXG2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369939; ENSP00000358955; ENSG00000116299. [Q6UXG2-1]
ENST00000529753; ENSP00000434595; ENSG00000116299. [Q6UXG2-3]
GeneIDi57535.
KEGGihsa:57535.
UCSCiuc009wey.4. human. [Q6UXG2-1]

Organism-specific databases

CTDi57535.
GeneCardsiKIAA1324.
HGNCiHGNC:29618. KIAA1324.
HPAiHPA029869.
MIMi611298. gene.
neXtProtiNX_Q6UXG2.
PharmGKBiPA142671607.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR78. Eukaryota.
ENOG410ZI6Z. LUCA.
GeneTreeiENSGT00390000011781.
HOGENOMiHOG000006645.
HOVERGENiHBG058349.
InParanoidiQ6UXG2.
OMAiTSKRTPD.
OrthoDBiEOG7PCJG2.
PhylomeDBiQ6UXG2.
TreeFamiTF315906.

Miscellaneous databases

ChiTaRSiKIAA1324. human.
GenomeRNAii57535.
NextBioi63952.
PROiQ6UXG2.
SOURCEiSearch...

Gene expression databases

BgeeiQ6UXG2.
CleanExiHS_KIAA1324.
ExpressionAtlasiQ6UXG2. baseline and differential.
GenevisibleiQ6UXG2. HS.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR009011. Man6P_isomerase_rcpt-bd_dom.
IPR011641. Tyr-kin_ephrin_A/B_rcpt-like.
[Graphical view]
SMARTiSM01411. Ephrin_rec_like. 4 hits.
[Graphical view]
SUPFAMiSSF50911. SSF50911. 1 hit.
SSF57184. SSF57184. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS VAL-86 AND PRO-623.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 3), VARIANTS VAL-86 AND PRO-623 AND PRO-1009.
  4. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 425-1013 (ISOFORM 4), VARIANT PRO-623.
    Tissue: Brain.
  5. "Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer."
    Deng L., Broaddus R.R., McCampbell A., Shipley G.L., Loose D.S., Stancel G.M., Pickar J.H., Davies P.J.A.
    Clin. Cancer Res. 11:8258-8264(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, INDUCTION, TISSUE SPECIFICITY.
    Tissue: Endometrium.
  6. "The novel estrogen-induced gene EIG121 regulates autophagy and promotes cell survival under stress."
    Deng L., Feng J., Broaddus R.R.
    Cell Death Dis. 1:E32-E32(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-829.

Entry informationi

Entry nameiK1324_HUMAN
AccessioniPrimary (citable) accession number: Q6UXG2
Secondary accession number(s): Q08AE6
, Q5T5C9, Q5T5D0, Q5T5D1, Q9P2M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: May 11, 2016
This is version 102 of the entry and version 2 of the sequence. [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 1
    Human chromosome 1: 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
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.