Q9EQG5

PR
Gene name
Bean1
Protein name
Protein BEAN1
Names
Brain-expressed protein associating with Nedd4, BEAN
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:65115
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

44-129 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9EQG5

Entry ID Method Resolution Chain Position Source
AF-Q9EQG5-F1 Predicted AlphaFoldDB

11 variants for Q9EQG5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388997710 65 Q>L No EVA
rs3388954118 105 R>K No EVA
rs3388992184 139 D>H No EVA
rs3388985183 140 S>P No EVA
rs3399262088 151 G>E No EVA
rs254846787 183 G>D No EVA
rs3388992134 189 R>H No EVA
rs3388985156 202 H>Q No EVA
rs225033505 212 Y>* No EVA
rs245383732 239 G>D No EVA
rs3389010405 244 T>S No EVA

2 associated diseases with Q9EQG5

[MIM: 604278]: Renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability (pRTA-OA)

An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269|PubMed:10545938, ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:23636456}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269|PubMed:10545938, ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:23636456}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9EQG5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9EQG5

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MSFKRPCPLA RYNRTSYFYP TTFSESSEHS HLLVSPVLVA SAVIGVVITL SCITIIVGSI
70 80 90 100 110 120
RRDRQARIQR HHHRHRRHHH HHRHRRRRHR EYASGGHTHS RSSPRMPYAC SPAEDWPPPL
130 140 150 160 170 180
DVSSEGDVDV TVLWELYPDS PPGYEECMGP GATQLYVPTD APPPYSMTDS CPRLNGALDS
190 200 210 220 230 240
DSGQSRSHRQ QEQRTQGQSR LHTVSMDTLP PYEAVCGTGS PSDLLPLPGP EPWPSNSQGS
250
PIPTQAPMPS PERIV