CNNM4
entrez
26504
canonical
uniprot
Q6P4Q7
canonical
ensembl
ENSG00000158158
resolver
ensp
ENSP00000366275
resolver
ensp
ENSP00000636824
resolver
ensp
ENSP00000794105
resolver
genesymbol
CNNM4
resolver
genesymbol_syn
ACDP4
resolver
genesymbol_syn
KIAA1592
resolver
hgnc
HGNC:105
resolver
uniprot
B7Z1U0
resolver
uniprot
C7SQM3
resolver
uniprot
C7SQM4
resolver
uniprot
C7SQM5
resolver
uniprot
Q53RE5
resolver
uniprot
Q9H9G3
resolver
uniprot
Q9HCI0
resolver
uniprot
Q9NRN1
resolver
uniprot_entry
CNNM4_HUMAN
resolver
uniprot_sec
B7Z1U0
resolver
uniprot_sec
C7SQM3
resolver
uniprot_sec
C7SQM4
resolver
uniprot_sec
C7SQM5
resolver
uniprot_sec
Q53RE5
resolver
uniprot_sec
Q9H9G3
resolver
uniprot_sec
Q9HCI0
resolver
uniprot_sec
Q9NRN1
resolver
amino_acid_sequence
MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGTNPDGIIFVSEGSTVNLRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQLVNVSRGNTSGVLVVLTKFLRRSESMKLYALCTRAQPDGPWLKWTDKDSLLFMVEEPGRFLPLWLHILLITVLLVLSGIFSGLNLGLMALDPMELRIVQNCGTEKERRYARKIEPIRRKGNYLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIVIFGEILPQALCSRHGLAVGANTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEPYNDLVKEELNMIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVDILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADNELKVKISPQLLLAAHRFLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARHYLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLSRSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKASHENAI
uniprot
proteins
disease_involvement
DISEASE: Jalili syndrome (JALIS) [MIM:217080]: A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO:0000269|PubMed:19200525, ECO:0000269|PubMed:19200527}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. {ECO:0000250, ECO:0000269|PubMed:19200525, ECO:0000269|PubMed:19200527}.
uniprot
proteins
mass_dalton
86607
uniprot
proteins
protein_family
ACDP family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
12657465
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15840172
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19200525
uniprot
proteins
pubmed
19200527
uniprot
proteins
pubmed
22399287
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22399287}; Multi-pass membrane protein {ECO:0000269|PubMed:22399287}.
uniprot
proteins
transmembrane_region
TRANSMEM 179..199; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 265..285; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 294..316; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins