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Protein

Protein FAM219A

Gene

FAM219A

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM219A
Gene namesi
Name:FAM219A
Synonyms:C9orf25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000164970.14
HGNCiHGNC:19920 FAM219A
neXtProtiNX_Q8IW50

Pathology & Biotechi

Organism-specific databases

DisGeNETi203259
OpenTargetsiENSG00000164970
PharmGKBiPA134916501

Polymorphism and mutation databases

BioMutaiFAM219A
DMDMi209572756

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000896761 – 185Protein FAM219AAdd BLAST185

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei47PhosphoserineCombined sources1
Modified residuei72PhosphoserineBy similarity1
Modified residuei102PhosphoserineCombined sources1
Modified residuei113PhosphothreonineCombined sources1
Modified residuei115PhosphoserineCombined sources1
Modified residuei122PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ8IW50
PaxDbiQ8IW50
PeptideAtlasiQ8IW50
PRIDEiQ8IW50

PTM databases

iPTMnetiQ8IW50
PhosphoSitePlusiQ8IW50
SwissPalmiQ8IW50

Expressioni

Gene expression databases

BgeeiENSG00000164970
CleanExiHS_C9orf25
ExpressionAtlasiQ8IW50 baseline and differential
GenevisibleiQ8IW50 HS

Organism-specific databases

HPAiHPA019338
HPA052909

Interactioni

Protein-protein interaction databases

BioGridi128461, 31 interactors
IntActiQ8IW50, 8 interactors
MINTiQ8IW50
STRINGi9606.ENSP00000392452

Structurei

3D structure databases

ProteinModelPortaliQ8IW50
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM219 family.Curated

Phylogenomic databases

eggNOGiENOG410IVPC Eukaryota
ENOG410Y14P LUCA
GeneTreeiENSGT00390000000860
HOVERGENiHBG054822
InParanoidiQ8IW50
OMAiSPLQMKI
OrthoDBiEOG091G0SWY
PhylomeDBiQ8IW50
TreeFamiTF331928

Family and domain databases

InterProiView protein in InterPro
IPR029339 FAM219
PANTHERiPTHR31281 PTHR31281, 1 hit
PfamiView protein in Pfam
PF15260 FAM219A, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IW50-1) [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
MMEEIDRFQV PTAHSEMQPL DPAAASISDG DCDAREGESV AMNYKPSPLQ
60 70 80 90 100
VKLEKQRELA RKGSLKNGSM GSPVNQQPKK NNVMARTRLV VPNKGYSSLD
110 120 130 140 150
QSPDEKPLVA LDTDSDDDFD MSRYSSSGYS SAEQINQDLN IQLLKDGYRL
160 170 180
DEIPDDEDLD LIPPKSVNPT CMCCQATSST ACHIQ
Length:185
Mass (Da):20,400
Last modified:October 14, 2008 - v3
Checksum:i114C59F2A3307D1E
GO
Isoform 2 (identifier: Q8IW50-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-20: Missing.
     37-53: Missing.

Show »
Length:157
Mass (Da):17,365
Checksum:i577A4FA4A6B7DC74
GO
Isoform 3 (identifier: Q8IW50-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-20: Missing.
     37-53: Missing.
     134-134: Missing.

Show »
Length:156
Mass (Da):17,237
Checksum:i23C408A7E30506A4
GO
Isoform 4 (identifier: Q8IW50-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-20: Missing.
     134-134: Missing.

Show »
Length:173
Mass (Da):19,080
Checksum:i1AC61D0AE876C0EC
GO
Isoform 5 (identifier: Q8IW50-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-53: Missing.
     134-134: Missing.

Show »
Length:167
Mass (Da):18,428
Checksum:iDF0BBC7B85EE99C1
GO
Isoform 6 (identifier: Q8IW50-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-53: Missing.

Show »
Length:168
Mass (Da):18,557
Checksum:i0AF680107AD137EB
GO
Isoform 7 (identifier: Q8IW50-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-169: SDDDFDMSRY...DLIPPKSVNP → RCVWGLGGSW...DILQPESLQG
     170-185: Missing.

Show »
Length:157
Mass (Da):17,433
Checksum:i389E604116E36355
GO

Sequence cautioni

The sequence CAI13147 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI13149 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI13151 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI13152 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI13153 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15969 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15970 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15972 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15973 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15974 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti123R → G in AK123887 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03549210 – 20Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_03549337 – 53Missing in isoform 2, isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_035494115 – 169SDDDF…KSVNP → RCVWGLGGSWAAQRNLYSTS GLYRPHLLYCQNWDILQPES LQG in isoform 7. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_035496134Missing in isoform 3, isoform 4 and isoform 5. 2 Publications1
Alternative sequenceiVSP_035495170 – 185Missing in isoform 7. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AI953059 mRNA No translation available.
AK096350 mRNA Translation: BAG53270.1
AK123887 mRNA No translation available.
AK294054 mRNA Translation: BAG57402.1
AK299882 mRNA Translation: BAG61730.1
AL160270, AL356494 Genomic DNA Translation: CAI13147.1 Different initiation.
AL160270, AL356494 Genomic DNA Translation: CAI13149.1 Different initiation.
AL160270, AL356494 Genomic DNA Translation: CAI13151.1 Different initiation.
AL160270, AL356494 Genomic DNA Translation: CAI13152.1 Different initiation.
AL160270, AL356494 Genomic DNA Translation: CAI13153.1 Different initiation.
AL356494, AL160270 Genomic DNA Translation: CAI15969.1 Different initiation.
AL356494, AL160270 Genomic DNA Translation: CAI15970.1 Different initiation.
AL356494, AL160270 Genomic DNA Translation: CAI15972.1 Different initiation.
AL356494, AL160270 Genomic DNA Translation: CAI15973.1 Different initiation.
AL356494, AL160270 Genomic DNA Translation: CAI15974.1 Different initiation.
AL160270, AL356494 Genomic DNA Translation: CAM16095.1
AL356494, AL160270 Genomic DNA Translation: CAM22385.1
CH471071 Genomic DNA Translation: EAW58454.1
BC025348 mRNA Translation: AAH25348.1
BC041009 mRNA Translation: AAH41009.1
CCDSiCCDS55304.1 [Q8IW50-1]
CCDS6556.1 [Q8IW50-6]
RefSeqiNP_001171869.1, NM_001184940.1 [Q8IW50-1]
NP_001171870.1, NM_001184941.1
NP_001171871.1, NM_001184942.1 [Q8IW50-4]
NP_001171872.1, NM_001184943.1 [Q8IW50-5]
NP_001171874.1, NM_001184945.1 [Q8IW50-3]
NP_671735.1, NM_147202.1 [Q8IW50-6]
XP_011516100.1, XM_011517798.2 [Q8IW50-2]
UniGeneiHs.493771

Genome annotation databases

EnsembliENST00000297620; ENSP00000297620; ENSG00000164970 [Q8IW50-6]
ENST00000445726; ENSP00000392452; ENSG00000164970 [Q8IW50-1]
GeneIDi203259
KEGGihsa:203259
UCSCiuc003zuj.4 human [Q8IW50-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiF219A_HUMAN
AccessioniPrimary (citable) accession number: Q8IW50
Secondary accession number(s): A2A364
, B4DFE1, B4DSR8, Q5T590, Q5T591, Q5T592, Q5T594, Q5T595, Q8TAZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: October 14, 2008
Last modified: March 28, 2018
This is version 109 of the entry and version 3 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
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Main funding by: National Institutes of Health